ClinVar Miner

List of variants reported as pathogenic for angioedema by Division of Rheumatology, Allergy and Immunology, UCSD

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000062.3(SERPING1):c.1233_1234insTC (p.Ile412fs) rs1945481508
NM_000062.3(SERPING1):c.195del (p.Leu65fs) rs1945329402
NM_000062.3(SERPING1):c.314_317del (p.Pro105fs) rs1945331796
NM_000062.3(SERPING1):c.576_583dup (p.Ser195fs) rs1945353409
NM_000062.3(SERPING1):c.686-1G>A rs1945404833
NM_000062.3(SERPING1):c.902del (p.Thr301fs) rs1945410259
NM_000062.3(SERPING1):c.985A>T (p.Lys329Ter) rs1945411910

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