List of variants reported as likely pathogenic for capillary malformation by Genetics, Medical University of Vienna

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)	rs1554809450	0.00001
NM_000020.3(ACVRL1):c.100dup (p.Cys34fs)	rs1555152440
NM_000020.3(ACVRL1):c.1204G>A (p.Gly402Ser)	rs1555153354
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)	rs1057517944
NM_000020.3(ACVRL1):c.200G>C (p.Arg67Pro)	rs863223414
NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser)	rs1555152966
NM_001114753.3(ENG):c.1479C>A (p.Cys493Ter)	rs1197761705
NM_001114753.3(ENG):c.816+1G>A	rs111471193

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