List of variants in gene ATP6V0A2 reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=)	rs150508296	0.00088
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=)	rs142454880	0.00076
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=)	rs75746974	0.00037
NM_012463.4(ATP6V0A2):c.522-9G>A	rs189175284	0.00036
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)	rs143142641	0.00035
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=)	rs146156426	0.00034
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile)	rs532258057	0.00019
NM_012463.4(ATP6V0A2):c.118-7_118-3del	rs777322469	0.00013
NM_012463.4(ATP6V0A2):c.1048G>A (p.Gly350Ser)	rs768141782	0.00006
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys)	rs759593402	0.00003
NM_012463.4(ATP6V0A2):c.1526T>G (p.Val509Gly)	rs760212304	0.00002
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys)	rs768609186	0.00001
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.840C>T (p.Thr280=)	rs139680786

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