NephVar / USD / Variants

USD Variants

ClinVar-derived variant database for the 30 urinary stone disease genes — 20,587 unique variants total. Select a gene to browse its full variant list with classification history and submission timelines.
ADCY10 687 variants
41P
13LP
329VUS
163LB
141B
0Other
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AGXT 1,114 variants
338P
118LP
208VUS
387LB
63B
0Other
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APRT 284 variants
120P
31LP
87VUS
30LB
16B
0Other
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ATP6V0A4 662 variants
88P
42LP
274VUS
133LB
125B
0Other
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ATP6V1B1 842 variants
83P
51LP
271VUS
386LB
51B
0Other
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CA2 254 variants
44P
10LP
107VUS
66LB
27B
0Other
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CASR 2,931 variants
247P
97LP
1585VUS
961LB
41B
0Other
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CLCN5 709 variants
244P
63LP
266VUS
88LB
48B
0Other
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CLCNKB 715 variants
78P
38LP
245VUS
182LB
172B
0Other
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CLDN16 411 variants
69P
26LP
190VUS
77LB
49B
0Other
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CLDN19 217 variants
20P
17LP
114VUS
50LB
16B
0Other
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CYP24A1 440 variants
49P
25LP
213VUS
80LB
73B
0Other
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FAM20A 367 variants
41P
20LP
174VUS
83LB
49B
0Other
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GRHPR 691 variants
157P
91LP
140VUS
268LB
35B
0Other
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HNF4A 673 variants
81P
90LP
282VUS
119LB
101B
0Other
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HOGA1 579 variants
91P
73LP
179VUS
208LB
28B
0Other
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HPRT1 407 variants
197P
34LP
73VUS
79LB
24B
0Other
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KCNJ1 421 variants
115P
41LP
154VUS
98LB
13B
0Other
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OCRL 879 variants
118P
58LP
275VUS
358LB
70B
0Other
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SLC12A1 1,080 variants
104P
59LP
389VUS
443LB
85B
0Other
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SLC22A12 321 variants
18P
10LP
177VUS
65LB
51B
0Other
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SLC2A9 525 variants
80P
14LP
254VUS
86LB
91B
0Other
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SLC34A1 605 variants
85P
31LP
291VUS
163LB
35B
0Other
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SLC34A3 906 variants
129P
51LP
386VUS
291LB
49B
0Other
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SLC3A1 736 variants
141P
57LP
379VUS
119LB
40B
0Other
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SLC4A1 935 variants
130P
113LP
461VUS
157LB
74B
0Other
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SLC7A9 439 variants
58P
46LP
181VUS
85LB
69B
0Other
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SLC9A3R1 208 variants
6P
0LP
131VUS
52LB
19B
0Other
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VDR 542 variants
37P
15LP
225VUS
228LB
37B
0Other
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XDH 1,007 variants
39P
33LP
540VUS
255LB
140B
0Other
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Pathogenic (P) Likely pathogenic (LP) Uncertain significance (VUS) Likely benign (LB) Benign (B) Other / conflicting