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
91 15 509 135 142 889

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
NPHP4 14 3 182 49 56 303
NPHP3, NPHP3-ACAD11 23 3 119 26 29 199
INVS 14 3 88 22 20 147
NPHP1 20 2 67 18 12 119
IQCB1 13 0 31 8 9 60
GLIS2 2 0 12 10 16 40
TMEM67 2 0 4 0 0 6
RPGRIP1L 0 0 4 0 0 4
MALL, NPHP1 1 0 1 0 0 2
ACAD11, ACKR4, DNAJC13, NPHP3, UBA5 0 0 1 0 0 1
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
NEK8 0 0 0 1 0 1
NPHP3 1 0 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
Invitae 78 10 474 132 139 833
Illumina Clinical Services Laboratory,Illumina 0 0 36 3 3 42
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 2 0 0 0 3

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