ClinVar Miner

Variants studied for azoospermia

Included ClinVar conditions (65):
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 risk factor not provided total
216 9 554 189 131 3 2 1095

Gene and significance breakdown #

Total genes and gene combinations: 64
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
DNAH1 20 2 372 169 99 0 0 661
CATSPER1 2 0 57 4 7 0 0 70
SPATA16 1 0 40 6 6 0 0 52
FANCM 6 0 32 0 0 0 0 37
NR5A1 10 4 11 2 4 0 0 31
AURKC 3 0 20 4 4 0 0 30
CHPT1, SYCP3 2 0 6 2 9 0 0 19
CFAP43 11 0 1 0 0 0 0 12
DNAH8 6 0 4 0 0 0 0 10
SUN5 8 0 0 0 0 0 0 8
CFAP44 6 0 1 0 0 0 0 7
DPY19L2 7 0 0 0 0 0 0 7
SPEF2 7 0 0 0 0 0 0 7
PMFBP1 6 0 0 0 0 0 0 6
TTC29 6 0 0 0 0 0 0 6
ARMC2 5 0 0 0 0 0 0 5
CFAP58 5 0 0 0 0 0 0 5
DNAH2 5 0 0 0 0 0 0 5
KLHL10 4 0 2 0 0 0 0 5
M1AP 5 0 0 0 0 0 0 5
PIK3C2G, PLCZ1 4 0 1 0 0 0 0 5
TEX15 4 0 1 0 0 0 0 5
TTC21A 5 0 0 0 0 0 0 5
CFAP251 4 0 0 0 0 0 0 4
CFAP65 3 0 1 0 0 0 0 4
CFAP69 4 0 0 0 0 0 0 4
DNAH17 4 1 0 0 0 0 0 4
FSIP2 4 0 0 0 0 0 0 4
QRICH2 4 0 0 0 0 0 0 4
TEX11 4 0 0 0 0 0 0 4
ZMYND15 3 0 1 0 0 0 0 4
ACTL9 3 0 0 0 0 0 0 3
C14orf39 3 0 0 0 0 0 0 3
CEP112 3 0 0 0 0 0 0 3
LOC101927178, PPP2R3C 3 0 0 0 0 0 0 3
NANOS1 3 0 0 1 0 0 0 3
SEPTIN12 0 0 0 0 0 3 2 3
SLC26A8 3 0 0 0 0 0 0 3
SYCP2 3 0 0 0 0 0 0 3
TDRD9 1 0 2 0 0 0 0 3
​intergenic 1 0 1 0 0 0 0 2
AK7 1 1 0 0 0 0 0 2
CFAP47, CXorf30 2 0 0 0 0 0 0 2
CFAP91 2 0 0 0 0 0 0 2
DZIP1 2 0 0 0 0 0 0 2
MEIOB 2 0 0 0 0 0 0 2
NLRP14 0 0 0 0 2 0 0 2
SPINK2 1 0 1 0 0 0 0 2
TEX14 2 0 0 0 0 0 0 2
ANK2 0 0 0 1 0 0 0 1
BRDT 1 0 0 0 0 0 0 1
CFAP47 1 0 0 0 0 0 0 1
CFAP65, LOC100129175 1 0 0 0 0 0 0 1
CFAP70 1 0 0 0 0 0 0 1
FAHD1, MEIOB 1 0 0 0 0 0 0 1
PDHA2 1 0 0 0 0 0 0 1
SOHLH1 1 0 0 0 0 0 0 1
STRC 0 1 0 0 0 0 0 1
SYCE1 1 0 0 0 0 0 0 1
SYCP3 1 0 0 0 0 0 0 1
TAF4B 1 0 0 0 0 0 0 1
TSGA10 1 0 0 0 0 0 0 1
USP9Y 1 0 0 0 0 0 0 1
XRCC2 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 21
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 20 5 382 171 103 0 0 681
OMIM 183 0 0 0 0 3 0 186
Illumina Clinical Services Laboratory,Illumina 0 0 122 16 26 0 0 163
Baylor Genetics 6 0 36 0 0 0 0 42
Fulgent Genetics,Fulgent Genetics 0 1 10 0 0 0 0 11
Diagnostic Laboratory, Strasbourg University Hospital 4 0 0 0 0 0 0 4
SIB Swiss Institute of Bioinformatics 2 2 0 0 0 0 0 4
Johns Hopkins Genomics, Johns Hopkins University 0 0 4 0 0 0 0 4
Institute of Reproductive and Stem Cell Engineering,Central South University 3 0 0 0 0 0 0 3
Reproductive Health Research and Development,BGI Genomics 1 0 1 1 0 0 0 3
GeneReviews 2 0 0 0 0 0 0 2
Reproductive Endocrinology and immunology College of Medicine, National Cheng Kung University 0 0 0 0 0 0 2 2
Biology Pathology Center,Lille University Hospital 1 1 0 0 0 0 0 2
Talkowski Laboratory, Center for Human Genetic Research,Massachusetts General Hospital 1 0 1 0 0 0 0 2
Dept of Molecular Biology and Genetics,Bogazici University 1 0 0 1 0 0 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 2 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 0 1
Laboratory of Molecular Oncology,N.N. Petrov Institute of Oncology 0 0 1 0 0 0 0 1
Research lab,Institute of Genetics and Molecular and Cellular Biology 1 0 0 0 0 0 0 1
Hereditary Hearing Loss Research Unit,University of Madras 0 0 1 0 0 0 0 1
Genetics of Infertility and Preimplantation Genetic Diagnosis,Centre Hospitalier Universitaire Grenoble Alpes 1 0 0 0 0 0 0 1

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