List of variants studied for capillary malformation by Baylor Genetics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)	rs150932144	0.00034
NM_002890.3(RASA1):c.64G>T (p.Gly22Cys)	rs371413736	0.00009
NM_016204.4(GDF2):c.252G>A (p.Glu84=)	rs1410431494	0.00001
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)	rs28936688
NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp)	rs2139076990
NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala)	rs1940905575
NM_000020.3(ACVRL1):c.55dup (p.Thr19fs)
NM_001114753.3(ENG):c.1273-2A>G	rs373842615
NM_001114753.3(ENG):c.1429-127A>G
NM_002890.3(RASA1):c.2452_2453del (p.Ile818fs)	rs1761473319
NM_002890.3(RASA1):c.2532_2533delinsATTTGA (p.Asn844fs)	rs1761580770
NM_004444.5(EPHB4):c.1109G>T (p.Cys370Phe)

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