NPHP Variants
ClinVar-derived variant database for the 16 nephronophthisis-related
ciliopathy genes — 21,532 unique variants total. Select a gene to
browse its full variant list with classification history and submission timelines.
ANKS6
623 variants
50P
16LP
324VUS
177LB
56B
0Other
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CEP164
1,572 variants
107P
56LP
741VUS
601LB
67B
0Other
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CEP290
4,305 variants
665P
328LP
1517VUS
1661LB
134B
0Other
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GLIS2
376 variants
35P
0LP
240VUS
69LB
32B
0Other
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INVS
1,103 variants
106P
38LP
497VUS
416LB
46B
0Other
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IQCB1
617 variants
79P
38LP
276VUS
163LB
61B
0Other
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NEK8
488 variants
27P
21LP
296VUS
123LB
21B
0Other
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NPHP1
1,197 variants
205P
71LP
428VUS
396LB
97B
0Other
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NPHP3
1,349 variants
123P
52LP
689VUS
405LB
80B
0Other
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NPHP4
1,841 variants
157P
69LP
947VUS
550LB
118B
0Other
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RPGRIP1L
2,077 variants
246P
133LP
807VUS
825LB
66B
0Other
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SDCCAG8
901 variants
143P
52LP
425VUS
249LB
32B
0Other
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TMEM67
1,374 variants
202P
88LP
501VUS
515LB
68B
0Other
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TTC21B
1,452 variants
146P
52LP
653VUS
508LB
93B
0Other
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WDR19
1,300 variants
102P
63LP
624VUS
444LB
67B
0Other
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ZNF423
957 variants
12P
2LP
495VUS
401LB
47B
0Other
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Pathogenic (P)
Likely pathogenic (LP)
Uncertain significance (VUS)
Likely benign (LB)
Benign (B)
Other / conflicting