List of variants reported as likely pathogenic for Cutis laxa with osteodystrophy

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_012463.4(ATP6V0A2):c.1046del (p.Ser349fs)
NM_012463.4(ATP6V0A2):c.1609T>C (p.Trp537Arg)
NM_012463.4(ATP6V0A2):c.16_19del (p.Arg6fs)	rs2541822774
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs)	rs80356756
NM_012463.4(ATP6V0A2):c.1935+1G>C

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