List of variants in gene ATP6V0A2 studied for Cutis laxa with osteodystrophy; Wrinkly skin syndrome

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_012463.4(ATP6V0A2):c.1327-16G>A	rs149092701	0.00033
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn)	rs144499089	0.00026
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val)	rs143802431	0.00025
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr)	rs754727464	0.00012
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His)	rs758922111	0.00006
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val)	rs762614200	0.00006
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu)	rs371908109	0.00004
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp)	rs781305219	0.00003
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr)	rs144946016	0.00002
NM_012463.4(ATP6V0A2):c.1514+1G>A	rs374480381	0.00001
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn)	rs777130500	0.00001
NM_012463.4(ATP6V0A2):c.1666G>A (p.Val556Met)	rs139454557
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His)	rs143509747
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu)	rs143509747
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile)	rs371533517

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