ClinVar Miner

List of variants studied for Spermatogenic failure 45

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_020877.5(DNAH2):c.11503T>C (p.Ser3835Pro) rs545849987 0.00002
NM_020877.5(DNAH2):c.6960C>A (p.Ser2320Arg) rs763882266 0.00002
NM_020877.5(DNAH2):c.5770C>T (p.Arg1924Cys) rs773343805 0.00001
NM_020877.5(DNAH2):c.11500C>T (p.Arg3834Ter) rs369801878
NM_020877.5(DNAH2):c.11644C>T (p.Arg3882Ter)
NM_020877.5(DNAH2):c.4597C>T (p.Arg1533Cys)
NM_020877.5(DNAH2):c.4701G>T (p.Lys1567Asn)
NM_020877.5(DNAH2):c.7145+1G>A
NM_020877.5(DNAH2):c.8263C>T (p.Arg2755Trp) rs143616651
NM_020877.5(DNAH2):c.9298C>T (p.Arg3100Trp) rs201414958

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