ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) rs764827256 0.00001
NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter) rs1758886343
NM_004444.5(EPHB4):c.1861_1864dup (p.Gly622fs) rs2116432544
NM_004444.5(EPHB4):c.2102T>G (p.Leu701Arg) rs1812966939

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