ClinVar Miner

List of variants in gene ATP6V0A2 reported as pathogenic for ALG9 congenital disorder of glycosylation

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_012463.4(ATP6V0A2):c.1514+1G>A rs374480381 0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs) rs958086368
NM_012463.4(ATP6V0A2):c.1604del (p.Pro535fs)
NM_012463.4(ATP6V0A2):c.1605+1G>A rs1956646992
NM_012463.4(ATP6V0A2):c.1945_1946del (p.Gln649fs)
NM_012463.4(ATP6V0A2):c.1994T>A (p.Leu665Ter)
NM_012463.4(ATP6V0A2):c.2015T>A (p.Leu672Ter)
NM_012463.4(ATP6V0A2):c.2203C>T (p.Gln735Ter) rs2135920743
NM_012463.4(ATP6V0A2):c.2304del (p.Asp768fs)
NM_012463.4(ATP6V0A2):c.302T>A (p.Leu101Ter)
NM_012463.4(ATP6V0A2):c.377_378del (p.Ile126fs)
NM_012463.4(ATP6V0A2):c.390_397dup (p.Arg133delinsThrCysTer)
NM_012463.4(ATP6V0A2):c.666G>A (p.Trp222Ter)
NM_012463.4(ATP6V0A2):c.732-2A>G rs80356753
NM_012463.4(ATP6V0A2):c.851del (p.Tyr283_Leu284insTer)
NM_012463.4(ATP6V0A2):c.877G>T (p.Glu293Ter)

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