ClinVar Miner

List of variants studied for Spermatogenic failure 18

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_015512.5(DNAH1):c.7805+13A>G rs770284 0.99996
NM_015512.5(DNAH1):c.11402G>A (p.Gly3801Asp) rs12163565 0.15635
NM_015512.5(DNAH1):c.6460A>G (p.Arg2154Gly) rs146002323 0.00138
NM_015512.5(DNAH1):c.9814C>T (p.Arg3272Cys) rs200784189 0.00085
NM_015512.5(DNAH1):c.3877G>A (p.Asp1293Asn) rs140883175 0.00034
NM_015512.5(DNAH1):c.46C>T (p.Gln16Ter) rs199910432 0.00019
NM_015512.5(DNAH1):c.6212T>G (p.Leu2071Arg) rs757396103 0.00018
NM_015512.5(DNAH1):c.10895G>A (p.Arg3632His) rs562263699 0.00014
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_002816.5(PSMD12):c.211G>T (p.Val71Leu) rs1332334979 0.00002
NM_015512.5(DNAH1):c.11552G>A (p.Arg3851His) rs757435709 0.00002
NM_015512.5(DNAH1):c.2339G>A (p.Arg780Gln) rs763577633 0.00002
NM_001347886.2(DNAH3):c.10122G>A (p.Trp3374Ter)
NM_001347886.2(DNAH3):c.10301G>A (p.Arg3434Gln)
NM_001347886.2(DNAH3):c.5005G>A (p.Gly1669Ser)
NM_001347886.2(DNAH3):c.6835T>C (p.Phe2279Leu)
NM_001347886.2(DNAH3):c.7339G>A (p.Asp2447Asn)
NM_001347886.2(DNAH3):c.8833C>T (p.Arg2945Cys)
NM_015512.5(DNAH1):c.10468_10471del (p.Arg3490fs) rs759646845
NM_015512.5(DNAH1):c.11495= (p.Arg3832=) rs1704644099
NM_015512.5(DNAH1):c.11788-1G>A rs1131692234
NM_015512.5(DNAH1):c.3860T>G (p.Val1287Gly) rs1131692251
NM_015512.5(DNAH1):c.4778dup (p.Asp1593fs)
NM_015512.5(DNAH1):c.5054C>G (p.Pro1685Arg)
NM_015512.5(DNAH1):c.6065_6066delinsTC (p.Trp2022Phe)
NM_015512.5(DNAH1):c.6131del (p.Phe2044fs) rs1703258379
NM_015512.5(DNAH1):c.6781_6782insG (p.Ser2261fs)
NM_015512.5(DNAH1):c.8626-1G>A rs1131692250
NM_015512.5(DNAH1):c.8668del (p.Thr2890fs)
NM_015512.5(DNAH1):c.9395G>A (p.Arg3132His)
NM_144668.6(CFAP251):c.3007-4915_3338-930del

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