ClinVar Miner

List of variants reported as likely 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: 9
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HGVS dbSNP
NM_004444.5(EPHB4):c.1950G>T (p.Lys650Asn) rs1584658113
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys) rs1562969219
NM_004444.5(EPHB4):c.2233A>G (p.Asn745Asp) rs1584654433
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly) rs776410552
NM_004444.5(EPHB4):c.2418C>G (p.Tyr806Ter) rs377702127
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) rs764827256
NM_004444.5(EPHB4):c.2533T>C (p.Cys845Arg) rs1584653054
NM_004444.5(EPHB4):c.2567G>A (p.Cys856Tyr) rs1584653005
NM_004444.5(EPHB4):c.2599T>C (p.Phe867Leu) rs1584652949

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