ClinVar Miner

List of variants studied for capillary malformation-arteriovenous malformation syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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.207dup (p.Glu70fs)
NM_004444.5(EPHB4):c.250G>A (p.Val84Ile)
NM_004444.5(EPHB4):c.412G>T (p.Val138Leu)

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