ClinVar Miner

List of variants studied for capillary malformation-arteriovenous malformation syndrome by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002890.3(RASA1):c.304G>T (p.Val102Leu) rs115606026 0.00315
NM_002890.3(RASA1):c.1813A>C (p.Lys605Gln)
NM_002890.3(RASA1):c.3037A>G (p.Ser1013Gly) rs993477801
NM_002890.3(RASA1):c.353A>G (p.Lys118Arg)
NM_004444.5(EPHB4):c.2215C>T (p.Arg739Ter)

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