ClinVar Miner

List of variants in gene ATP6V0A4 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_020632.3(ATP6V0A4):c.1662C>T (p.Phe554=) rs1026435 0.69705
NM_020632.3(ATP6V0A4):c.5T>C (p.Val2Ala) rs10258719 0.69303
NM_020632.3(ATP6V0A4):c.1812T>C (p.His604=) rs3807154 0.65254
NM_020632.3(ATP6V0A4):c.1478+17A>G rs6467797 0.26043
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153 0.09195
NM_020632.3(ATP6V0A4):c.1033C>A (p.Leu345Ile) rs61747674 0.00612
NM_020632.3(ATP6V0A4):c.2035G>T (p.Asp679Tyr) rs150777839 0.00506
NM_020632.3(ATP6V0A4):c.2326G>A (p.Val776Ile) rs142313541 0.00153
NM_020632.3(ATP6V0A4):c.1048A>G (p.Met350Val) rs76977934 0.00126
NM_020632.3(ATP6V0A4):c.2011-8G>A rs183571925 0.00061
NM_020632.3(ATP6V0A4):c.2140-9G>A rs201174170 0.00056
NM_020632.3(ATP6V0A4):c.1002T>C (p.Arg334=) rs774810624 0.00007
NM_020632.3(ATP6V0A4):c.1231G>T (p.Asp411Tyr) rs763982675 0.00002
NM_020632.3(ATP6V0A4):c.417+8C>T rs767661194 0.00002
NM_020632.3(ATP6V0A4):c.1119A>G (p.Thr373=)
NM_020632.3(ATP6V0A4):c.1839C>T (p.Leu613=)
NM_020632.3(ATP6V0A4):c.1986T>C (p.Leu662=)
NM_020632.3(ATP6V0A4):c.2227C>T (p.Arg743Trp)
NM_020632.3(ATP6V0A4):c.2258-3C>T
NM_020632.3(ATP6V0A4):c.2293dup (p.Ser765fs)
NM_020632.3(ATP6V0A4):c.338del (p.Asn113fs)

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