ClinVar Miner

Variants studied for Nephronophthisis

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
54 8 451 66 19 596

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NPHP4 6 0 103 19 2 130
NPHP3, NPHP3-ACAD11 13 1 81 12 3 110
GLIS2 2 0 62 10 3 77
INVS 10 3 57 3 4 77
RPGRIP1L 0 0 60 9 0 68
NPHP1 12 0 30 8 3 52
TMEM67 2 0 30 1 2 35
NEK8 0 0 25 3 2 30
IQCB1 8 0 3 0 0 11
CEP290 1 0 0 0 0 1
FAM186B 0 1 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 1
INCENP 0 1 0 0 0 1
PIAS1 0 1 0 0 0 1
RBM48 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 0 351 53 17 421
Invitae 38 3 104 13 2 160
GeneReviews 16 0 3 0 0 19
Yale Center for Mendelian Genomics,Yale University 0 4 0 0 0 4
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 1 1 0 0 0 2

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