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 not provided total
367 99 1942 1918 217 19 4548

Gene and significance breakdown #

Total genes and gene combinations: 45
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
NPHP4 77 25 673 588 76 2 1436
INVS 87 17 319 416 27 4 866
NPHP3, NPHP3-ACAD11 71 16 394 323 40 2 843
NPHP1 70 18 264 350 24 1 727
IQCB1 39 11 179 142 22 1 392
GLIS2 0 0 43 58 21 2 124
LOC129937586, NPHP3, NPHP3-ACAD11 4 0 38 32 3 0 77
LOC126806306, NPHP1 5 1 6 6 1 0 19
TMEM67 0 0 2 0 0 4 6
NPHP3 3 0 2 0 0 0 5
CPLANE1 0 1 3 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
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 359 81 1895 1914 216 0 4465
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.