ClinVar Miner

List of variants reported as pathogenic for arteriovenous malformations of the brain by Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.920dup (p.Asn307fs) rs1554810174
NM_006513.4(SARS1):c.971T>C (p.Ile324Thr) rs1553178399
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser) rs1555196298
NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter) rs1555556099

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