List of variants studied for capillary malformation-arteriovenous malformation syndrome by OMIM

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_002890.3(RASA1):c.1619G>A (p.Cys540Tyr)	rs137853217
NM_002890.3(RASA1):c.2252_2255dup (p.Ala753fs)	rs1580386963
NM_002890.3(RASA1):c.475_476del (p.Leu159fs)	rs797044451
NM_002890.3(RASA1):c.829-9G>A	rs1348578241
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter)	rs137853218
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys)	rs1562969219
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly)	rs776410552
NM_004444.5(EPHB4):c.2484+1G>A	rs927772349
NM_004444.5(EPHB4):c.2484+1G>T	rs927772349
NM_004444.5(EPHB4):c.2484+2dup	rs1584653620
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg)	rs1562974383
NM_004444.5(EPHB4):c.33del (p.Leu12fs)	rs1562976493
NM_004444.5(EPHB4):c.570dup (p.His191fs)	rs1562973614
NM_004444.5(EPHB4):c.632_633del (p.Val211fs)	rs1562973541
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg)	rs201816920

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