List of variants reported as likely pathogenic for capillary malformation by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 35

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HGVS	dbSNP	gnomAD frequency
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)	rs1329127701	0.00003
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	rs121909284	0.00001
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr)	rs1940813707
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)	rs28936401
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)	rs121909287
NM_000020.3(ACVRL1):c.1246+5G>A	rs1940838881
NM_000020.3(ACVRL1):c.1298C>A (p.Pro433His)	rs1940907270
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg)	rs1940955941
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del)	rs1940959480
NM_000020.3(ACVRL1):c.1459A>C (p.Lys487Gln)	rs1940959530
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln)	rs863223414
NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr)	rs863223410
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)	rs28936687
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)	rs750085854
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg)	rs750085854
NM_000020.3(ACVRL1):c.848G>T (p.Gly283Val)	rs1940804461
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro)	rs1565594217
NM_000020.3(ACVRL1):c.916_917insTCA (p.Ala306delinsValThr)	rs1940807412
NM_001114753.3(ENG):c.-127C>T	rs1060501408
NM_001114753.3(ENG):c.1166_1168del (p.Phe389del)	rs1588577016
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)	rs1830431553
NM_001114753.3(ENG):c.1311+5G>C	rs1830423993
NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro)	rs1830384577
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)	rs1564462765
NM_001114753.3(ENG):c.360+4A>G	rs1564457752
NM_001114753.3(ENG):c.360+5G>A	rs1060501417
NM_001114753.3(ENG):c.503TCC[4] (p.Leu170_Arg171insLeu)	rs1830619692
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)	rs1588583488
NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr)	rs1830599119
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)	rs1830597676
NM_001114753.3(ENG):c.763G>T (p.Gly255Cys)	rs1830580925
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)	rs1830569662
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)	rs1335718486
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)	rs1482440395
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	rs1060501410

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