ClinVar Miner

Variants studied for azoospermia

Included ClinVar conditions (43):
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
113 5 253 81 81 3 2 534

Gene and significance breakdown #

Total genes and gene combinations: 39
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
DNAH1 15 0 201 67 75 0 0 358
SPATA16 1 0 26 5 1 0 0 32
FANCM 5 0 10 0 0 0 0 15
AURKC 3 0 7 2 2 0 0 13
NR5A1 4 3 4 0 2 0 0 13
CHPT1, SYCP3 2 0 3 6 1 0 0 12
CFAP43 11 0 0 0 0 0 0 11
DPY19L2 7 0 0 0 0 0 0 7
CFAP44 6 0 0 0 0 0 0 6
SUN5 6 0 0 0 0 0 0 6
PMFBP1 5 0 0 0 0 0 0 5
CFAP69 4 0 0 0 0 0 0 4
FSIP2 4 0 0 0 0 0 0 4
TEX11 4 0 0 0 0 0 0 4
TEX15 4 0 0 0 0 0 0 4
WDR66 4 0 0 0 0 0 0 4
CATSPER1 2 0 1 0 0 0 0 3
KLHL10 3 0 0 0 0 0 0 3
NANOS1 3 0 0 0 0 0 0 3
SEPTIN12 0 0 0 0 0 3 2 3
SLC26A8 3 0 0 0 0 0 0 3
​intergenic 1 0 1 0 0 0 0 2
AK7 1 1 0 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
MEIOB 1 0 0 0 0 0 0 1
PDHA2 1 0 0 0 0 0 0 1
PIK3C2G, PLCZ1 1 0 0 0 0 0 0 1
SOHLH1 1 0 0 0 0 0 0 1
SPINK2 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
TDRD9 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
ZMYND15 1 0 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 12
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign risk factor not provided total
Invitae 11 3 205 67 77 0 0 363
OMIM 100 0 0 0 0 3 0 103
Illumina Clinical Services Laboratory,Illumina 0 0 36 13 4 0 0 52
Fulgent Genetics,Fulgent Genetics 0 1 10 0 0 0 0 11
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
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
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
SIB Swiss Institute of Bioinformatics 0 1 0 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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