ClinVar Miner

List of variants reported as pathogenic for male infertility by Institute of Reproductive Genetics, University of Münster

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000044.6(AR):c.1792A>G (p.Ser598Gly) rs142280455 0.00038
NM_000044.6(AR):c.1301C>T (p.Ser434Phe) rs748457992 0.00011
NM_000044.6(AR):c.2059T>C (p.Cys687Arg)
NM_000044.6(AR):c.2270A>G (p.Asn757Ser)
NM_000044.6(AR):c.2486A>T (p.Asp829Val) rs2147537806
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_001003811.2:c.(-157_-99+1)_(738-1_792+1)del
NM_001003811.2:c.(159+1_160-1)_(692+1_693-1)del
NM_001003811.2:c.(652-1_737+1)_(738-1_792+1)del
NM_001321739.2(M1AP):c.1073_1074+10del
NM_001378211.1(SHOC1):c.1137_1140del (p.Glu379fs)
NM_001378211.1(SHOC1):c.1539T>A (p.Cys513Ter)
NM_001378211.1(SHOC1):c.1543del (p.Ser515fs)
NM_001378211.1(SHOC1):c.2131+2T>C
NM_003602.5(FKBP6):c.508_529dup (p.Phe177fs)
NM_003602.5(FKBP6):c.589-2A>G
NM_031276.3(TEX11):c.1008dup (p.Ser337fs)
NM_031276.3(TEX11):c.1200G>A (p.Trp400Ter)
NM_031276.3(TEX11):c.1792+1G>C
NM_031276.3(TEX11):c.37+10228del
NM_031276.3(TEX11):c.686G>A (p.Trp229Ter)
NM_031276.3(TEX11):c.747+1G>A
NM_144594.3(GTSF1):c.221_222del (p.Arg74fs)
Single allele

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.