ClinVar Miner

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

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450 0.00001
NC_000009.12:g.127814980_127830815del
NC_000009.12:g.127814982_127820052del
NM_000020.3(ACVRL1):c.1041del (p.Asp348fs) rs1940813766
NM_000020.3(ACVRL1):c.1171G>T (p.Glu391Ter) rs1940836063
NM_000020.3(ACVRL1):c.139dup (p.Arg47fs) rs1940731944
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.3(ACVRL1):c.1448del (p.Leu483fs) rs1940958854
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
NM_000020.3(ACVRL1):c.259del (p.His87fs) rs1940739463
NM_000020.3(ACVRL1):c.375dup (p.Val126fs) rs1940751760
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter) rs1940756257
NM_000020.3(ACVRL1):c.626-2A>G rs1940780382
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_001114753.3(ENG):c.1183G>T (p.Glu395Ter) rs1830434079
NM_001114753.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_001114753.3(ENG):c.1273-2A>T rs373842615
NM_001114753.3(ENG):c.1334del (p.Met445fs) rs1085307432
NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter) rs774943840
NM_001114753.3(ENG):c.1384C>T (p.Gln462Ter) rs1830397703
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter) rs1830395639
NM_001114753.3(ENG):c.1437_1456dup (p.Phe486fs) rs1830385549
NM_001114753.3(ENG):c.146del (p.Val49fs) rs1831082309
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs) rs1830384910
NM_001114753.3(ENG):c.1490dup (p.Leu497fs) rs1830384514
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter) rs1830383454
NM_001114753.3(ENG):c.1582_1583del (p.Pro528fs) rs1554809253
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter) rs148475405
NM_001114753.3(ENG):c.1626del (p.Thr544fs) rs1830377451
NM_001114753.3(ENG):c.164del (p.Ala55fs) rs1831081460
NM_001114753.3(ENG):c.166C>T (p.Gln56Ter) rs1588596879
NM_001114753.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_001114753.3(ENG):c.208G>T (p.Glu70Ter) rs1179814153
NM_001114753.3(ENG):c.220-225_991+123del
NM_001114753.3(ENG):c.220-226_1134+331del
NM_001114753.3(ENG):c.220-988_1134+331del
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.298_299del (p.Ser100fs) rs1830715784
NM_001114753.3(ENG):c.328C>T (p.Gln110Ter) rs1830713927
NM_001114753.3(ENG):c.360+1G>A rs886039505
NM_001114753.3(ENG):c.370del (p.Leu124fs) rs1830624241
NM_001114753.3(ENG):c.39del (p.Leu14fs) rs1829096531
NM_001114753.3(ENG):c.496del (p.Gln166fs) rs1830620247
NM_001114753.3(ENG):c.496dup (p.Gln166fs) rs1830620247
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_001114753.3(ENG):c.523+229_991+123del
NM_001114753.3(ENG):c.524-1_689+1del rs1830595697
NM_001114753.3(ENG):c.63dup (p.Thr22fs) rs1829096099
NM_001114753.3(ENG):c.667dup (p.Val223fs) rs1588582666
NM_001114753.3(ENG):c.68-4227_219+104del
NM_001114753.3(ENG):c.689+1G>A rs1588582594
NM_001114753.3(ENG):c.690-2A>G rs1564455970
NM_001114753.3(ENG):c.736del (p.Asp246fs) rs1554810249
NM_001114753.3(ENG):c.761_767dup (p.Pro257fs) rs1830580607
NM_001114753.3(ENG):c.772del (p.Tyr258fs) rs1830580093
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter) rs537154767
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs) rs1830579577
NM_001114753.3(ENG):c.817-1G>A rs1564455715
NM_001114753.3(ENG):c.899_901delinsC (p.Leu300fs) rs1830569401
NM_001114753.3(ENG):c.967_968del (p.Val323fs) rs1830566817
NM_001114753.3(ENG):c.992-2A>G rs1588580932
Single allele

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