ClinVar Miner

List of variants studied for capillary malformation-arteriovenous malformation syndrome by New York Genome Center

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002890.3(RASA1):c.285_305del (p.93AGVAGAA[1]) rs745572583
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly) rs146937374
NM_004444.5(EPHB4):c.2044G>A (p.Val682Met) rs2116431583

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