ClinVar Miner

List of variants reported as pathogenic for Hereditary angioedema type 1

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000062.3(SERPING1):c.1198C>T (p.Arg400Cys) rs201363394 0.00001
NC_000011.10:g.57597582C>T rs2135304804
NG_009625.1:g.(13995_19163)_(19384_21774)del
NM_000062.3(SERPING1):c.-22-155G>T rs1945307391
NM_000062.3(SERPING1):c.1012C>T (p.Gln338Ter) rs1565171906
NM_000062.3(SERPING1):c.1029+384A>G rs1945416520
NM_000062.3(SERPING1):c.1036C>T (p.Gln346Ter) rs1590829609
NM_000062.3(SERPING1):c.106_107del (p.Ser36fs) rs1590822296
NM_000062.3(SERPING1):c.1106del (p.Asp369fs) rs1565173309
NM_000062.3(SERPING1):c.1180del (p.Thr394fs) rs1590829763
NM_000062.3(SERPING1):c.1196C>G (p.Pro399Arg)
NM_000062.3(SERPING1):c.1233_1234insTC (p.Ile412fs) rs1945481508
NM_000062.3(SERPING1):c.1247T>A (p.Leu416Ter) rs1565173405
NM_000062.3(SERPING1):c.1249+1G>T rs112565881
NM_000062.3(SERPING1):c.124G>T (p.Glu42Ter) rs778625408
NM_000062.3(SERPING1):c.1264del (p.Ser422fs) rs1554996817
NM_000062.3(SERPING1):c.1268dup (p.Tyr423Ter) rs1554996819
NM_000062.3(SERPING1):c.1306del (p.Leu436fs)
NM_000062.3(SERPING1):c.1342_1349dup (p.Thr450_Glu451insAsnTer) rs1590831385
NM_000062.3(SERPING1):c.1353_1354del (p.Glu451fs) rs1554996833
NM_000062.3(SERPING1):c.1373C>T (p.Ala458Val) rs1590831432
NM_000062.3(SERPING1):c.1385T>G (p.Ile462Ser) rs763451792
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys) rs28940870
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) rs121907948
NM_000062.3(SERPING1):c.1417G>A (p.Val473Met) rs956390201
NM_000062.3(SERPING1):c.1420C>T (p.Gln474Ter) rs1565174105
NM_000062.3(SERPING1):c.1446G>A (p.Trp482Ter) rs1590831545
NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter) rs922149386
NM_000062.3(SERPING1):c.195del (p.Leu65fs) rs1945329402
NM_000062.3(SERPING1):c.1A>C (p.Met1Leu) rs1565168898
NM_000062.3(SERPING1):c.1A>G (p.Met1Val) rs1565168898
NM_000062.3(SERPING1):c.314_317del (p.Pro105fs) rs1945331796
NM_000062.3(SERPING1):c.342_345del (p.Thr115fs) rs1565169621
NM_000062.3(SERPING1):c.346C>T (p.Gln116Ter) rs2135308550
NM_000062.3(SERPING1):c.347del (p.Gln116fs) rs1590822588
NM_000062.3(SERPING1):c.508del (p.Ser170fs) rs1590822739
NM_000062.3(SERPING1):c.550+745_685+308del
NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg) rs281875170
NM_000062.3(SERPING1):c.55A>T (p.Arg19Ter) rs1565169419
NM_000062.3(SERPING1):c.576_583dup (p.Ser195fs) rs1945353409
NM_000062.3(SERPING1):c.586_589del (p.Ile196fs) rs1565170287
NM_000062.3(SERPING1):c.597C>G (p.Tyr199Ter) rs121907951
NM_000062.3(SERPING1):c.600dup (p.Lys201fs) rs1590823884
NM_000062.3(SERPING1):c.615dup (p.Val206fs) rs1554995260
NM_000062.3(SERPING1):c.646delinsTCAGTGTCGTG (p.Lys216delinsSerValSerTer) rs1554995271
NM_000062.3(SERPING1):c.674_675delinsAA (p.Phe225Ter) rs1565170364
NM_000062.3(SERPING1):c.686-1G>A rs1945404833
NM_000062.3(SERPING1):c.902del (p.Thr301fs) rs1945410259
NM_000062.3(SERPING1):c.908T>C (p.Phe303Ser) rs1590826703
NM_000062.3(SERPING1):c.953C>G (p.Ser318Ter) rs1554995860
NM_000062.3(SERPING1):c.985A>T (p.Lys329Ter) rs1945411910

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