ClinVar Miner

List of variants in gene ATP6V0A2 studied for ATP6V0A2-related disorder

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00675
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.773A>G (p.Glu258Gly) rs141467923 0.00087
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) rs142454880 0.00068
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284 0.00033
NM_012463.4(ATP6V0A2):c.1128C>T (p.Thr376=) rs138172178 0.00021
NM_012463.4(ATP6V0A2):c.2505C>G (p.Thr835=) rs535703391 0.00011
NM_012463.4(ATP6V0A2):c.2151A>T (p.Gly717=) rs138276982 0.00008
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) rs199698721 0.00006
NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr) rs199801221 0.00005
NM_012463.4(ATP6V0A2):c.768C>T (p.Ala256=) rs373419502 0.00005
NM_012463.4(ATP6V0A2):c.1194C>T (p.Leu398=) rs775345155 0.00003
NM_012463.4(ATP6V0A2):c.1485C>T (p.Pro495=) rs759980365 0.00002
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) rs367873118 0.00002
NM_012463.4(ATP6V0A2):c.1362C>T (p.Leu454=) rs1442099245 0.00001
NM_012463.4(ATP6V0A2):c.2388C>T (p.Leu796=) rs755697937 0.00001
NM_012463.4(ATP6V0A2):c.1281G>A (p.Leu427=) rs1284470006
NM_012463.4(ATP6V0A2):c.1431C>G (p.Asn477Lys) rs755721045
NM_012463.4(ATP6V0A2):c.177A>G (p.Glu59=) rs1956367944
NM_012463.4(ATP6V0A2):c.1986C>G (p.Val662=) rs760292376
NM_012463.4(ATP6V0A2):c.2136C>G (p.His712Gln)
NM_012463.4(ATP6V0A2):c.2466-4_2466-3dup rs370511382
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=) rs139785866

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