ClinVar Miner

List of variants studied for capillary malformation by Center of Genomic medicine, Geneva,University Hospital of Geneva

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000020.2(ACVRL1):c.105del (p.Cys36fs) rs1555152447
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000118.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001077401.2(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_002890.3(RASA1):c.1024dup (p.Glu342fs) rs1554045819
Single allele

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