ClinVar Miner

List of variants reported as benign for angioedema

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000505.4(F12):c.619G>C (p.Ala207Pro) rs17876030 0.96534
NM_000301.5(PLG):c.1878-17G>A rs2859879 0.68619
NM_000505.4(F12):c.-4T>C rs1801020 0.67118
NM_000062.3(SERPING1):c.1030-20A>G rs2511988 0.60677
NM_000062.3(SERPING1):c.1029+2110T>C rs2454659 0.60589
NM_000301.5(PLG):c.2286T>G (p.Gly762=) rs11060 0.55831
NM_000505.4(F12):c.1019-28T>C rs17876031 0.55815
NM_000301.5(PLG):c.*45A>G rs6690 0.54884
NM_000301.5(PLG):c.771T>C (p.Cys257=) rs14224 0.44739
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_000301.5(PLG):c.942C>T (p.Phe314=) rs1130656 0.35208
NM_000301.5(PLG):c.950+14G>A rs2295368 0.35203
NM_000301.5(PLG):c.330C>T (p.Asn110=) rs4757 0.34390
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_003052.5(SLC34A1):c.*202A>C rs6556319 0.03226
NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) rs7379524 0.02591
NM_000505.4(F12):c.711C>T (p.Pro237=) rs17876047 0.02352
NM_000505.4(F12):c.756C>T (p.Ala252=) rs41309752 0.01977
NM_000062.3(SERPING1):c.1218C>T (p.Ser406=) rs11229070 0.01377
NM_000301.5(PLG):c.1380T>A (p.Ser460Arg) rs116573785 0.01344
NM_000062.3(SERPING1):c.1030-1975G>C rs151035150 0.01222
NM_000505.4(F12):c.1342C>T (p.Arg448Cys) rs115119084 0.00679
NM_000062.3(SERPING1):c.1029+1497A>G rs17661117 0.00675
NM_000062.3(SERPING1):c.751C>T (p.Leu251=) rs35788383 0.00558
NM_000505.4(F12):c.398-12C>T rs56285942 0.00495
NM_000505.4(F12):c.930G>C (p.Arg310Ser) rs77098327 0.00359
NM_000301.5(PLG):c.1431C>T (p.Ser477=) rs4699 0.00248
NM_000505.4(F12):c.418C>G (p.Leu140Val) rs35515200 0.00247
NM_000505.4(F12):c.1018+13G>C rs552424629 0.00239
NM_000301.5(PLG):c.1803-17C>A rs201530084 0.00180
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_000505.4(F12):c.1299C>T (p.Asn433=) rs17876033 0.00093
NM_000062.3(SERPING1):c.849C>T (p.Ser283=) rs143760635 0.00090
NM_000505.4(F12):c.1018+12G>C rs758462343 0.00082
NM_000505.4(F12):c.348C>A (p.Gly116=) rs140243617 0.00081
NM_000505.4(F12):c.120C>T (p.Leu40=) rs149368999 0.00073
NM_000505.4(F12):c.1107G>C (p.Ser369=) rs141473119 0.00063
NM_000062.3(SERPING1):c.142A>G (p.Thr48Ala) rs11546661 0.00049
NM_000062.3(SERPING1):c.686-9T>C rs141593943 0.00029
NM_000062.3(SERPING1):c.-24G>C rs112290300 0.00016
NM_000505.4(F12):c.530C>T (p.Ala177Val) rs144821595 0.00004
NM_000062.3(SERPING1):c.352A>G (p.Thr118Ala) rs200534715 0.00003
NM_000505.4(F12):c.1704G>A (p.Val568=) rs536390950 0.00003
NM_000062.3(SERPING1):c.1030-1513del rs1184255008 0.00002
NM_000062.3(SERPING1):c.1250-154C>G rs879810971 0.00001
NM_000062.3(SERPING1):c.1029+5G>T rs575103656
NM_000062.3(SERPING1):c.1030-1198G>T rs2508443
NM_000062.3(SERPING1):c.51+612GT[8] rs3054018
NM_000062.3(SERPING1):c.51G>C (p.Gly17=) rs199473715
NM_000062.3(SERPING1):c.551-156A>G rs1945351209
NM_000062.3(SERPING1):c.551-495A>C rs28362948
NM_000505.4(F12):c.1018+11G>T rs570973405
NM_000505.4(F12):c.1018+19del rs35966430
NM_000505.4(F12):c.1025C>T (p.Pro342Leu) rs2230939
NM_000505.4(F12):c.1251-9C>A rs17876032
NM_000505.4(F12):c.1251-9C>T rs17876032
NM_013451.4(MYOF):c.1679A>C (p.Asp560Ala)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.