ClinVar Miner

List of variants reported as pathogenic for Spermatogenic failure 18

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_015512.5(DNAH1):c.3877G>A (p.Asp1293Asn) rs140883175 0.00034
NM_015512.5(DNAH1):c.11726_11727del (p.Pro3909fs) rs779490893 0.00004
NM_015512.5(DNAH1):c.9610C>T (p.Arg3204Ter) rs759727960 0.00004
NM_015512.5(DNAH1):c.12143del (p.Ala4048fs) rs746049858 0.00003
NM_001347886.2(DNAH3):c.5005G>A (p.Gly1669Ser)
NM_001347886.2(DNAH3):c.7339G>A (p.Asp2447Asn)
NM_015512.5(DNAH1):c.11788-1G>A rs1131692234
NM_015512.5(DNAH1):c.3860T>G (p.Val1287Gly) rs1131692251
NM_015512.5(DNAH1):c.6131del (p.Phe2044fs) rs1703258379
NM_015512.5(DNAH1):c.8626-1G>A rs1131692250
NM_015512.5(DNAH1):c.8668del (p.Thr2890fs)
NM_144668.6(CFAP251):c.3007-4915_3338-930del

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