ClinVar Miner

List of variants reported as likely benign for hereditary angioedema type 3

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000505.4(F12):c.398-12C>T rs56285942 0.00495
NM_000505.4(F12):c.1272G>C (p.Thr424=) rs61737766 0.00486
NC_000005.10:g.177409584C>G rs41309132 0.00297
NM_000505.4(F12):c.-62C>T rs187018744 0.00223
NM_000505.4(F12):c.-8C>T rs369991760 0.00032
NM_000505.4(F12):c.1387+4C>G rs761161412 0.00014
NM_000505.4(F12):c.-3G>A rs201346142 0.00011
NM_000505.4(F12):c.41T>C (p.Leu14Ser) rs143809932 0.00010
NM_000505.4(F12):c.129C>T (p.Thr43=) rs201546796 0.00004
NM_000505.4(F12):c.293G>A (p.Cys98Tyr) rs770412757 0.00001
NM_000505.4(F12):c.1025C>T (p.Pro342Leu) rs2230939
NM_000505.4(F12):c.1251-7C>T rs375340260

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