List of variants in gene ATP6V0A2 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_012463.4(ATP6V0A2):c.*2875A>C	rs149741581	0.00851
NM_012463.4(ATP6V0A2):c.*191T>C	rs150408179	0.00595
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)	rs138716143	0.00258
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)	rs138886791	0.00148
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)	rs150508296	0.00088
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)	rs143142641	0.00035
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=)	rs367950442	0.00021
NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=)	rs201694504	0.00011
NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr)	rs199801221	0.00005
NM_012463.4(ATP6V0A2):c.868A>G (p.Lys290Glu)	rs772170459	0.00003
NM_012463.4(ATP6V0A2):c.1485C>T (p.Pro495=)	rs759980365	0.00002
NM_012463.4(ATP6V0A2):c.2043C>T (p.Phe681=)	rs202084330	0.00002
NM_012463.4(ATP6V0A2):c.2320C>T (p.Leu774=)	rs1337898685	0.00002
NM_012463.4(ATP6V0A2):c.2376G>A (p.Pro792=)	rs571286312	0.00002
NM_012463.4(ATP6V0A2):c.892C>T (p.Arg298Cys)	rs1217674662	0.00002
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=)	rs367873118	0.00002
NM_012463.4(ATP6V0A2):c.1057A>G (p.Ile353Val)	rs374873455	0.00001
NM_012463.4(ATP6V0A2):c.1495A>G (p.Lys499Glu)	rs1240866102	0.00001
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn)	rs777130500	0.00001
NM_012463.4(ATP6V0A2):c.1152T>C (p.Asp384=)	rs2541863760
NM_012463.4(ATP6V0A2):c.1165G>A (p.Gly389Arg)	rs1956634532
NM_012463.4(ATP6V0A2):c.1219T>C (p.Leu407=)	rs1956637508
NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met)	rs139454557
NM_012463.4(ATP6V0A2):c.2314G>C (p.Ala772Pro)	rs1956768742
NM_012463.4(ATP6V0A2):c.2478G>A (p.Gln826=)
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)	rs139785866
NM_012463.4(ATP6V0A2):c.391A>G (p.Met131Val)
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)	rs143509747
NM_012463.4(ATP6V0A2):c.522-13del	rs140638516

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