ClinVar Miner

List of variants reported as pathogenic for angioedema

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000062.3(SERPING1):c.1198C>T (p.Arg400Cys) rs201363394 0.00001
NM_000301.5(PLG):c.988A>G (p.Lys330Glu) rs889957249 0.00001
NM_001009606.4(HS3ST6):c.430A>T (p.Thr144Ser) rs746467957 0.00001
NM_001146.5(ANGPT1):c.355G>T (p.Ala119Ser) rs764987358 0.00001
NM_013451.4(MYOF):c.651G>T (p.Arg217Ser) rs1256778304 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.1019del (p.Thr339_Leu340insTer) rs2135318396
NM_000062.3(SERPING1):c.1029+384A>G rs1945416520
NM_000062.3(SERPING1):c.1036C>T (p.Gln346Ter) rs1590829609
NM_000062.3(SERPING1):c.1051del (p.His351fs) rs2135324476
NM_000062.3(SERPING1):c.106_107del (p.Ser36fs) rs1590822296
NM_000062.3(SERPING1):c.1094dup (p.His365fs) rs2135324565
NM_000062.3(SERPING1):c.1106del (p.Asp369fs) rs1565173309
NM_000062.3(SERPING1):c.1180del (p.Thr394fs) rs1590829763
NM_000062.3(SERPING1):c.1186del (p.Leu395_Leu396insTer) rs2135324746
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.1249+2T>C rs2135324885
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.1269T>A (p.Tyr423Ter) rs750873571
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.1357_1358insTGT (p.Gly453delinsValTrp) rs606231141
NM_000062.3(SERPING1):c.1361T>A (p.Val454Glu) rs121907949
NM_000062.3(SERPING1):c.1372G>A (p.Ala458Thr) rs121907947
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>A (p.Arg466Ser) rs28940870
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.1450C>T (p.Gln484Ter) rs2135328243
NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter) rs922149386
NM_000062.3(SERPING1):c.172_181del (p.Pro58fs) rs2135308147
NM_000062.3(SERPING1):c.195del (p.Leu65fs) rs1945329402
NM_000062.3(SERPING1):c.197dup (p.Thr67fs) rs2135308182
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.229A>T (p.Lys77Ter) rs2135308228
NM_000062.3(SERPING1):c.232del (p.Lys77_Ile78insTer) rs2135308232
NM_000062.3(SERPING1):c.314_317del (p.Pro105fs) rs1945331796
NM_000062.3(SERPING1):c.330_331insC (p.Thr111fs) rs2135308522
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.377del (p.Pro126fs)
NM_000062.3(SERPING1):c.508del (p.Ser170fs) rs1590822739
NM_000062.3(SERPING1):c.550+1G>T rs2135308859
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.623dup (p.Ala209fs) rs2135311324
NM_000062.3(SERPING1):c.635dup (p.Phe213fs) rs2135311344
NM_000062.3(SERPING1):c.646delinsTCAGTGTCGTG (p.Lys216delinsSerValSerTer) rs1554995271
NM_000062.3(SERPING1):c.673_675del (p.Phe225del) rs2135311395
NM_000062.3(SERPING1):c.674_675delinsAA (p.Phe225Ter) rs1565170364
NM_000062.3(SERPING1):c.686-1G>A rs1945404833
NM_000062.3(SERPING1):c.733_736dup (p.Ser246fs) rs2135317617
NM_000062.3(SERPING1):c.748_749del (p.Val250fs) rs2135317631
NM_000062.3(SERPING1):c.74del (p.Asn25fs) rs2135307959
NM_000062.3(SERPING1):c.779dup (p.Leu261fs) rs2135317696
NM_000062.3(SERPING1):c.785dup (p.Asn263fs) rs2135317718
NM_000062.3(SERPING1):c.902del (p.Thr301fs) rs1945410259
NM_000062.3(SERPING1):c.908T>C (p.Phe303Ser) rs1590826703
NM_000062.3(SERPING1):c.941_942insTC (p.Phe315fs) rs2135318252
NM_000062.3(SERPING1):c.951dup (p.Ser318fs) rs2135318269
NM_000062.3(SERPING1):c.953C>G (p.Ser318Ter) rs1554995860
NM_000062.3(SERPING1):c.983_984delinsC (p.Lys328fs) rs2135318339
NM_000062.3(SERPING1):c.985A>T (p.Lys329Ter) rs1945411910
NM_000301.5(PLG):c.2183T>A (p.Val728Glu) rs1582955358
NM_000505.4(F12):c.894_911dup (p.Gln300_Thr305dup) rs774034606
NM_000505.4(F12):c.971_1018+24del rs1554097246
NM_000505.4(F12):c.983C>A (p.Thr328Lys) rs118204456
NM_000505.4(F12):c.983C>G (p.Thr328Arg) rs118204456
NM_001102416.3(KNG1):c.1136T>A (p.Met379Lys) rs765933558
NM_001102416.3(KNG1):c.1720C>G (p.Pro574Ala) rs1369253342

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