List of variants in gene ATP6V0A2 reported as benign for congenital disorder of glycosylation type I

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 36

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HGVS	dbSNP	gnomAD frequency
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=)	rs7135542	0.71178
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=)	rs1139789	0.66312
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=)	rs1399961	0.66054
NM_012463.4(ATP6V0A2):c.432+14C>T	rs11837144	0.65907
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val)	rs17883456	0.02527
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg)	rs79134187	0.02323
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His)	rs74922060	0.01800
NM_012463.4(ATP6V0A2):c.1039-14T>C	rs115569365	0.01308
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser)	rs75279884	0.01166
NM_012463.4(ATP6V0A2):c.1606-12G>A	rs112415338	0.01148
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=)	rs73420336	0.00931
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln)	rs7969410	0.00727
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)	rs138716143	0.00258
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=)	rs138886791	0.00150
NM_012463.4(ATP6V0A2):c.1039-12T>C	rs190537134	0.00128
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)	rs150508296	0.00088
NM_012463.4(ATP6V0A2):c.1189+12G>T	rs377235629	0.00085
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=)	rs80355657	0.00078
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=)	rs142454880	0.00076
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)	rs143142641	0.00035
NM_012463.4(ATP6V0A2):c.1327-16G>A	rs149092701	0.00033
NM_012463.4(ATP6V0A2):c.1128C>T (p.Thr376=)	rs138172178	0.00021
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=)	rs367950442	0.00021
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=)	rs140835376	0.00021
NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=)	rs201694504	0.00011
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=)	rs2271659	0.00008
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=)	rs181112338	0.00006
NM_012463.4(ATP6V0A2):c.2294-4G>A	rs551697992	0.00001
NM_012463.4(ATP6V0A2):c.118-6del
NM_012463.4(ATP6V0A2):c.1190-7dup
NM_012463.4(ATP6V0A2):c.1724+20del	rs375845531
NM_012463.4(ATP6V0A2):c.1724+20dup
NM_012463.4(ATP6V0A2):c.2466-3del
NM_012463.4(ATP6V0A2):c.2466-3dup	rs370511382
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=)	rs139785866
NM_012463.4(ATP6V0A2):c.522-13del	rs140638516

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