ClinVar Miner

List of variants reported as pathogenic for Azoospermia by Genetics of Infertility and Preimplantation Genetic Diagnosis, Centre Hospitalier Universitaire Grenoble Alpes

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Total variants: 21
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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_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_032485.6(MCM8):c.482A>C (p.His161Pro) rs140044814
NM_052957.5(GCNA):c.1507del (p.Glu504fs) rs2147732931
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

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