ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.2(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.2(ACVRL1):c.269G>A (p.Cys90Tyr) rs863223410
NM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.2(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr)
NM_000020.3(ACVRL1):c.1246+5G>A
NM_000020.3(ACVRL1):c.1298C>A (p.Pro433His)
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg)
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del)
NM_000020.3(ACVRL1):c.1459A>C (p.Lys487Gln)
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys)
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg)
NM_000020.3(ACVRL1):c.848G>T (p.Gly283Val)
NM_000020.3(ACVRL1):c.916_917insTCA (p.Ala306delinsValThr)
NM_000118.3(ENG):c.-127C>T rs1060501408
NM_000118.3(ENG):c.1134G>A (p.Ala378=) rs1329127701
NM_000118.3(ENG):c.1166_1168del (p.Phe389del) rs1588577016
NM_000118.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_000118.3(ENG):c.360+4A>G rs1564457752
NM_000118.3(ENG):c.360+5G>A rs1060501417
NM_000118.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_000118.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser)
NM_001114753.3(ENG):c.1311+5G>C
NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro)
NM_001114753.3(ENG):c.503TCC[4] (p.Leu170dup)
NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr)
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)
NM_001114753.3(ENG):c.763G>T (p.Gly255Cys)
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)

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