ClinVar Miner

List of variants studied for male infertility by Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes

Included ClinVar conditions (138):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_005390.5(PDHA2):c.679A>G (p.Met227Val) rs200969445 0.00006
NM_033364.4(CFAP91):c.124G>C (p.Asp42His) rs149348782 0.00006
NM_173518.5(MCMDC2):c.1795C>T (p.Arg599Ter) rs370115455 0.00006
NM_001136505.2(TERB1):c.733G>A (p.Gly245Arg) rs766256171 0.00005
NM_001017975.6(HFM1):c.3588+1G>A rs746229304 0.00003
NM_018995.3(MOV10L1):c.743+5G>A rs367878826 0.00003
NM_001102592.2(HENMT1):c.226G>A (p.Gly76Arg) rs1383002765 0.00001
NM_013264.5(DDX25):c.1129C>T (p.Arg377Ter) rs779794319 0.00001
NM_172166.4(MSH5):c.537+1G>A rs1809169096 0.00001
NM_001048205.2(REC8):c.860_861del (p.Pro287fs) rs2138790657
NM_001083965.2(TDRKH):c.1003A>T (p.Lys335Ter) rs2101585615
NM_001102592.2(HENMT1):c.456C>G (p.Tyr152Ter) rs2100996308
NM_001163560.3(MEIOB):c.1118_1121del (p.Phe373fs) rs2142076836
NM_007068.4(DMC1):c.364A>G (p.Thr122Ala) rs2145963298
NM_007068.4(DMC1):c.860C>A (p.Pro287His) rs2145771075
NM_032131.6(ARMC2):c.1023+1G>A rs1562372417
NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs) rs1562381747
NM_032131.6(ARMC2):c.2279T>A (p.Ile760Asn) rs1562435988
NM_032131.6(ARMC2):c.2353_2354del (p.Leu785fs) rs1562436860
NM_032131.6(ARMC2):c.421C>T (p.Gln141Ter) rs1562332833
NM_032485.6(MCM8):c.482A>C (p.His161Pro) rs140044814
NM_033364.4(CFAP91):c.682+1G>A rs147597066
NM_052957.5(GCNA):c.1507del (p.Glu504fs) rs2147732931
NM_144668.6(CFAP251):c.3007-4915_3338-930del
NM_144688.5(KASH5):c.1146+5G>A rs188572864
NM_153046.3(TDRD9):c.3483_3484dup (p.Ser1162fs) rs2152252501
NM_153046.3(TDRD9):c.720_723del (p.Ser241fs) rs765353898
NM_174978.3(C14orf39):c.204_205del (p.His68fs) rs1406759691

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.