ClinVar Miner

List of variants in gene ATP6V0A2 reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 16
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HGVS dbSNP
NM_012463.4(ATP6V0A2):c.1048G>A (p.Gly350Ser) rs768141782
NM_012463.4(ATP6V0A2):c.118-7_118-3del rs777322469
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) rs532258057
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=) rs146156426
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) rs142454880
NM_012463.4(ATP6V0A2):c.1526T>G (p.Val509Gly) rs760212304
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) rs149700024
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys) rs768609186
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys) rs759593402
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=) rs139680786
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974

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