ClinVar Miner

List of variants reported as pathogenic for Male infertility with azoospermia or oligozoospermia due to single gene mutation by Laan Lab, Human Genetics Research Group, University of Tartu

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001321739.2(M1AP):c.676dup (p.Trp226fs) rs144217347 0.00238
NM_031272.5(TEX14):c.1003C>T (p.Arg335Ter) rs141801212 0.00112
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer) rs554675432 0.00013
NM_020937.4(FANCM):c.1491dup (p.Gln498fs) rs797045116 0.00005
NM_000044.6(AR):c.1723C>G (p.Leu575Val) rs376443652 0.00003
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_004959.5(NR5A1):c.334C>T (p.Gln112Ter) rs1832456567
NM_006767.4(LZTR1):c.891T>A (p.Tyr297Ter)
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys) rs141090506
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418

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