ClinVar Miner

List of variants studied for capillary malformation by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_000020.2(ACVRL1):c.1221G>T (p.Glu407Asp) rs1565595129
NM_004444.5(EPHB4):c.2102T>G (p.Leu701Arg)
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) rs764827256

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