ClinVar Miner

List of variants in gene ATP6V0A2 reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 11
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HGVS dbSNP
NM_012463.4(ATP6V0A2):c.1165G>A (p.Gly389Arg)
NM_012463.4(ATP6V0A2):c.1495A>G (p.Lys499Glu) rs1240866102
NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met)
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) rs149700024
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn)
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791
NM_012463.4(ATP6V0A2):c.2314G>C (p.Ala772Pro)
NM_012463.4(ATP6V0A2):c.2320C>T (p.Leu774=) rs1337898685
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) rs752689489
NM_012463.4(ATP6V0A2):c.65C>T (p.Ala22Val)
NM_012463.4(ATP6V0A2):c.892C>T (p.Arg298Cys) rs1217674662

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