List of variants reported as pathogenic for Cutis laxa with osteodystrophy; Wrinkly skin syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)	rs745590426	0.00004
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.130del (p.Asn43_Val44insTer)
NM_012463.4(ATP6V0A2):c.390_397dup (p.Arg133delinsThrCysTer)

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