ClinVar Miner

List of variants in gene SERPING1 studied for angioedema

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 183
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HGVS dbSNP gnomAD frequency
NM_000062.3(SERPING1):c.1030-20A>G rs2511988 0.60677
NM_000062.3(SERPING1):c.1029+2110T>C rs2454659 0.60589
NM_000062.3(SERPING1):c.551-155A>G rs2936694 0.39893
NM_000062.3(SERPING1):c.52-696C>T rs1005511 0.39698
NM_000062.3(SERPING1):c.1030-865C>T rs2511989 0.39267
NM_000062.3(SERPING1):c.52-130C>T rs1005510 0.38858
NM_000062.3(SERPING1):c.1250-282T>C rs1557522 0.31091
NM_000062.3(SERPING1):c.685+1100C>T rs78364821 0.21309
NM_000062.3(SERPING1):c.1029+1443G>C rs78624400 0.21307
NM_000062.3(SERPING1):c.1438G>A (p.Val480Met) rs4926 0.21304
NM_000062.3(SERPING1):c.1029+312T>C rs11603020 0.21296
NM_000062.3(SERPING1):c.1250-538T>C rs10896631 0.21295
NM_000062.3(SERPING1):c.1029+851C>G rs11229066 0.21292
NM_000062.3(SERPING1):c.1030-1222A>G rs3824988 0.21286
NM_000062.3(SERPING1):c.1029+926G>T rs11229067 0.21283
NM_000062.3(SERPING1):c.1029+2111G>A rs138770460 0.21254
NM_000062.3(SERPING1):c.686-1565G>A rs28362950 0.21220
NM_000062.3(SERPING1):c.685+88G>A rs11229063 0.20974
NM_000062.3(SERPING1):c.686-957A>G rs28362951 0.20950
NM_000062.3(SERPING1):c.686-1572G>T rs28362949 0.20898
NM_000062.3(SERPING1):c.551-500C>G rs28362947 0.20877
NM_000062.3(SERPING1):c.51+101G>A rs28362945 0.12487
NM_000062.3(SERPING1):c.-21T>C rs28362944 0.03250
NM_000062.3(SERPING1):c.1218C>T (p.Ser406=) rs11229070 0.01377
NM_000062.3(SERPING1):c.1030-1975G>C rs151035150 0.01222
NM_000062.3(SERPING1):c.1029+1497A>G rs17661117 0.00675
NM_000062.3(SERPING1):c.751C>T (p.Leu251=) rs35788383 0.00558
NM_000062.3(SERPING1):c.1029+260G>A rs191053716 0.00155
NM_000062.3(SERPING1):c.468C>T (p.Ala156=) rs150601964 0.00138
NM_000062.3(SERPING1):c.167T>C (p.Val56Ala) rs11546660 0.00124
NM_000062.3(SERPING1):c.5C>T (p.Ala2Val) rs185342631 0.00094
NM_000062.3(SERPING1):c.686-179A>G rs189335964 0.00091
NM_000062.3(SERPING1):c.849C>T (p.Ser283=) rs143760635 0.00090
NM_000062.3(SERPING1):c.142A>G (p.Thr48Ala) rs11546661 0.00049
NM_000062.3(SERPING1):c.465C>T (p.His155=) rs201627388 0.00049
NM_000062.3(SERPING1):c.550+9C>G rs201294420 0.00046
NM_000062.3(SERPING1):c.-36A>T rs761350979 0.00032
NM_000062.3(SERPING1):c.686-9T>C rs141593943 0.00029
NM_000062.3(SERPING1):c.*66T>C rs899262177 0.00024
NM_000062.3(SERPING1):c.686-5C>G rs28362952 0.00022
NM_000062.3(SERPING1):c.-24G>C rs112290300 0.00016
NM_000062.3(SERPING1):c.1164G>A (p.Met388Ile) rs141529833 0.00016
NM_000062.2(SERPING1):c.-99C>G rs866115469 0.00010
NM_000062.3(SERPING1):c.997G>A (p.Ala333Thr) rs202192543 0.00009
NM_000062.3(SERPING1):c.244A>T (p.Thr82Ser) rs147409450 0.00006
NM_000062.3(SERPING1):c.117C>G (p.Asp39Glu) rs11229062 0.00004
NM_000062.3(SERPING1):c.169G>A (p.Glu57Lys) rs752993036 0.00004
NM_000062.3(SERPING1):c.352A>G (p.Thr118Ala) rs200534715 0.00003
NM_000062.3(SERPING1):c.1030-1513del rs1184255008 0.00002
NM_000062.3(SERPING1):c.1434C>T (p.Leu478=) rs768058061 0.00002
NM_000062.3(SERPING1):c.227C>T (p.Thr76Ile) rs182779591 0.00002
NM_000062.3(SERPING1):c.981C>T (p.Ser327=) rs1433680488 0.00002
NM_000062.2(SERPING1):c.-94C>G rs1190911080 0.00001
NM_000062.3(SERPING1):c.100C>A (p.Pro34Thr) rs781444611 0.00001
NM_000062.3(SERPING1):c.1198C>T (p.Arg400Cys) rs201363394 0.00001
NM_000062.3(SERPING1):c.1250-154C>G rs879810971 0.00001
NM_000062.3(SERPING1):c.135C>T (p.Val45=) rs886048399 0.00001
NM_000062.3(SERPING1):c.285C>A (p.Thr95=) rs886048400 0.00001
NM_000062.3(SERPING1):c.330A>G (p.Pro110=) rs1371887844 0.00001
NM_000062.3(SERPING1):c.686-1335T>A rs1156278971 0.00001
NM_000062.3(SERPING1):c.721C>T (p.Arg241Trp) rs145436911 0.00001
NC_000011.10:g.57597582C>T rs2135304804
NG_009625.1:g.(13995_19163)_(19384_21774)del
NM_000062.2(SERPING1):c.-100C>G rs578018379
NM_000062.2(SERPING1):c.-105C>A rs886048397
NM_000062.2(SERPING1):c.-99dup rs28362939
NM_000062.3(SERPING1):c.-22-155G>T rs1945307391
NM_000062.3(SERPING1):c.-56T>G rs886048398
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.1029+5G>T rs575103656
NM_000062.3(SERPING1):c.1030-1198G>T rs2508443
NM_000062.3(SERPING1):c.1036C>T (p.Gln346Ter) rs1590829609
NM_000062.3(SERPING1):c.1038_1052del (p.Gln346_Ser350del) rs1590829616
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.1100T>G (p.Leu367Arg) rs2135324578
NM_000062.3(SERPING1):c.1104del (p.Asp369fs) rs1590829685
NM_000062.3(SERPING1):c.1106del (p.Asp369fs) rs1565173309
NM_000062.3(SERPING1):c.1147A>G (p.Met383Val) rs746382640
NM_000062.3(SERPING1):c.1180del (p.Thr394fs) rs1590829763
NM_000062.3(SERPING1):c.1186del (p.Leu395_Leu396insTer) rs2135324746
NM_000062.3(SERPING1):c.1192C>G (p.Leu398Val) rs2135324760
NM_000062.3(SERPING1):c.1193T>C (p.Leu398Pro) rs1945480328
NM_000062.3(SERPING1):c.1193T>G (p.Leu398Arg) rs1945480328
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.1249+5G>C rs1590829846
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.1289T>G (p.Leu430Arg) rs281875174
NM_000062.3(SERPING1):c.1306del (p.Leu436fs)
NM_000062.3(SERPING1):c.1324C>G (p.Gln442Glu) rs1590831346
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.1379C>G (p.Ser460Cys) rs2135328051
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.1409T>A (p.Val470Asp) rs1590831488
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.1422G>C (p.Gln474His) rs1450674538
NM_000062.3(SERPING1):c.1424A>C (p.Gln475Pro) rs1945516584
NM_000062.3(SERPING1):c.1425G>T (p.Gln475His) rs1945516624
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.1475T>C (p.Met492Thr) rs978962357
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.239C>G (p.Ala80Gly) rs774944411
NM_000062.3(SERPING1):c.293C>T (p.Pro98Leu) rs1945331471
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.369C>G (p.Cys123Trp) rs1465637711
NM_000062.3(SERPING1):c.377del (p.Pro126fs)
NM_000062.3(SERPING1):c.491_502del (p.Glu164_Met167del) rs1590822719
NM_000062.3(SERPING1):c.497A>C (p.Asn166Thr) rs1945333871
NM_000062.3(SERPING1):c.508del (p.Ser170fs) rs1590822739
NM_000062.3(SERPING1):c.51+1del rs1590821401
NM_000062.3(SERPING1):c.51+612GT[8] rs3054018
NM_000062.3(SERPING1):c.51G>C (p.Gly17=) rs199473715
NM_000062.3(SERPING1):c.538C>T (p.Gln180Ter) rs2135308831
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.551-156A>G rs1945351209
NM_000062.3(SERPING1):c.551-495A>C rs28362948
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.587T>A (p.Ile196Asn) rs1554995255
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.686-1333A>T rs1945388566
NM_000062.3(SERPING1):c.686-1488_686-1487insT rs1945386835
NM_000062.3(SERPING1):c.686-1G>A rs1945404833
NM_000062.3(SERPING1):c.708T>G (p.Phe236Leu) rs2135317558
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.856C>G (p.Arg286Gly) rs1392305191
NM_000062.3(SERPING1):c.871A>C (p.Asn291His) rs1057520366
NM_000062.3(SERPING1):c.872A>G (p.Asn291Ser) rs754401203
NM_000062.3(SERPING1):c.878T>C (p.Ile293Thr) rs1590826571
NM_000062.3(SERPING1):c.890-14C>G rs2135318127
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_000062.3(SERPING1):c.9del (p.Arg4fs) rs1945310324

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