ClinVar Miner

Variants studied for Nephronophthisis

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 not provided total
326 91 1933 1745 214 19 4314

Gene and significance breakdown #

Total genes and gene combinations: 45
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NPHP4 67 24 670 532 76 2 1366
INVS 76 14 318 379 27 4 814
NPHP3, NPHP3-ACAD11 64 15 393 287 39 2 797
NPHP1 62 17 262 334 23 1 699
IQCB1 35 9 177 129 22 1 371
GLIS2 0 0 44 45 20 2 111
LOC129937586, NPHP3, NPHP3-ACAD11 4 0 37 30 3 0 74
LOC126806306, NPHP1 5 1 6 6 1 0 19
TMEM67 0 0 2 0 0 4 6
CPLANE1 0 1 3 0 0 0 4
NPHP3 2 0 2 0 0 0 4
RPGRIP1L 0 0 3 0 0 1 4
CEP290 0 2 0 0 0 1 3
MALL, NPHP1 1 0 1 0 1 0 3
ADAMTS9 0 2 0 0 0 0 2
AHI1 2 0 0 0 0 0 2
CC2D2A 0 0 2 0 0 0 2
IFT172 0 0 2 0 0 0 2
LOC129937587, NPHP3, NPHP3-ACAD11 0 0 1 0 1 0 2
MKKS 2 0 0 0 0 0 2
RMND1 2 0 0 0 0 0 2
TTC21B 0 2 0 0 0 0 2
ACAD11, ACKR4, DNAJC13, NPHP3, UBA5 0 0 1 0 0 0 1
AJAP1, NPHP4 0 0 1 0 0 0 1
ALG2, ANKS6, ANP32B, COL15A1, CORO2A, ERP44, FOXE1, GABBR2, GALNT12, HEMGN, INVS, NANS, NCBP1, NR4A3, SEC61B, STX17, TBC1D2, TDRD7, TGFBR1, TMOD1, TRIM14, TRMO, TSTD2, XPA 1 0 0 0 0 0 1
BFSP2, NPHP3, TMEM108, UBA5 1 0 0 0 0 0 1
CEP164 0 0 1 0 0 0 1
CEP83 0 0 0 0 0 1 1
EVC 0 0 1 0 0 0 1
FAM186B 0 1 0 0 0 0 1
FTO, RPGRIP1L 0 0 0 1 0 0 1
GOLGB1, IQCB1 1 0 0 0 0 0 1
IFT140 0 0 1 0 0 0 1
IFT140, LOC105371046 1 0 0 0 0 0 1
INCENP 0 1 0 0 0 0 1
INVS, LOC130002251 0 0 0 0 1 0 1
KAT6B 0 0 1 0 0 0 1
KCNAB2, NPHP4 0 0 1 0 0 0 1
KIF7 0 0 0 1 0 0 1
NEK8 0 0 0 1 0 0 1
NIPBL 0 0 1 0 0 0 1
NPHP3, UBA5 0 0 1 0 0 0 1
PIAS1 0 1 0 0 0 0 1
RBM48 0 1 0 0 0 0 1
SRGAP1 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 8
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 318 73 1886 1741 213 0 4231
Illumina Laboratory Services, Illumina 0 0 36 3 3 0 42
Sydney Genome Diagnostics, Children's Hospital Westmead 14 9 15 1 0 0 39
GeneReviews 1 0 0 0 0 18 19
Yale Center for Mendelian Genomics, Yale University 0 8 0 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 2 3 0 0 0 0 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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