ClinVar Miner

List of variants reported as pathogenic for capillary malformation by SIB Swiss Institute of Bioinformatics

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_004444.5(EPHB4):c.1123G>T (p.Gly375Ter) rs1484547615
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp) rs769965440
NM_004444.5(EPHB4):c.389G>A (p.Trp130Ter) rs1584666961

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