ClinVar Miner

List of variants reported as likely benign for Hereditary angioneurotic edema

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933 0.02221
NM_000505.4(F12):c.1342C>T (p.Arg448Cys) rs115119084 0.00679
NM_003052.5(SLC34A1):c.*485G>A rs143160780 0.00504
NM_000505.4(F12):c.1272G>C (p.Thr424=) rs61737766 0.00486
NM_000505.3(F12):c.-57G>C rs41309132 0.00297
NM_003052.5(SLC34A1):c.*179G>A rs141664220 0.00237
NM_000505.4(F12):c.-62C>T rs187018744 0.00223
NM_003052.5(SLC34A1):c.*361T>C rs539754545 0.00096
NM_000505.4(F12):c.1299C>T (p.Asn433=) rs17876033 0.00093
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) rs199565633 0.00010
NM_000062.2(SERPING1):c.-99dup rs28362939
NM_000505.4(F12):c.1251-7C>T rs375340260

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