ClinVar Miner

List of variants studied for capillary malformation by Medical & Molecular Genetics Group,University of Lincoln

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_000020.2(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.2(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248
NM_000020.2(ACVRL1):c.1124A>G (p.Tyr375Cys) rs1085307416
NM_000020.2(ACVRL1):c.1195T>C (p.Trp399Arg) rs1085307418
NM_000020.2(ACVRL1):c.1196G>T (p.Trp399Leu) rs121909289
NM_000020.2(ACVRL1):c.1280A>T (p.Asp427Val) rs1085307420
NM_000020.2(ACVRL1):c.1324G>A (p.Val442Met) rs1085307421
NM_000020.2(ACVRL1):c.1385C>G (p.Ser462Ter) rs1085307422
NM_000020.2(ACVRL1):c.1388del (p.Gly463fs) rs1085307423
NM_000020.2(ACVRL1):c.1390del (p.Gly463_Leu464insTer) rs1085307424
NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.2(ACVRL1):c.1460A>C (p.Lys487Thr) rs1085307428
NM_000020.2(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
NM_000020.2(ACVRL1):c.199C>T (p.Arg67Trp) rs1085307405
NM_000020.2(ACVRL1):c.37del (p.Leu13fs) rs1085307404
NM_000020.2(ACVRL1):c.593T>A (p.Val198Glu) rs886043123
NM_000020.2(ACVRL1):c.602A>G (p.Gln201Arg) rs1085307407
NM_000020.2(ACVRL1):c.788A>G (p.Asp263Gly) rs1085307408
NM_000020.2(ACVRL1):c.818T>C (p.Leu273Pro) rs1085307409
NM_000118.3(ENG):c.1334del (p.Met445fs) rs1085307432
NM_000118.3(ENG):c.1410del (p.Gln471fs) rs1085307433
NM_000118.3(ENG):c.1742-22T>C rs1085307434
NM_000118.3(ENG):c.1804del (p.Ile602fs) rs1085307435
NM_000118.3(ENG):c.682_686del (p.Ser228fs) rs1085307430
NM_000118.3(ENG):c.788T>A (p.Ile263Asn) rs1085307431
NM_001077401.2(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288
NM_001077401.2(ACVRL1):c.1450delinsTG (p.Arg484fs) rs1085307427
NM_001077401.2(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_001077401.2(ACVRL1):c.653_654inv (p.Arg218Pro)

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