ClinVar Miner

List of variants in gene ANGPT1 studied for angioedema

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001146.5(ANGPT1):c.1151G>A (p.Arg384Gln) rs146465357 0.00109
NM_001146.5(ANGPT1):c.1110G>C (p.Gln370His) rs200226727 0.00046
NM_001146.5(ANGPT1):c.355G>T (p.Ala119Ser) rs764987358 0.00001

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