ClinVar Miner

List of variants studied for angioedema by CeMIA

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_000505.4(F12):c.619G>C (p.Ala207Pro) rs17876030 0.96534
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_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.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_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.1030-1975G>C rs151035150 0.01222
NM_000062.3(SERPING1):c.1029+1497A>G rs17661117 0.00675
NM_000505.4(F12):c.418C>G (p.Leu140Val) rs35515200 0.00247
NM_000062.3(SERPING1):c.1029+260G>A rs191053716 0.00155
NM_000062.3(SERPING1):c.686-179A>G rs189335964 0.00091
NM_000505.4(F12):c.41T>C (p.Leu14Ser) rs143809932 0.00010
NM_000505.4(F12):c.530C>T (p.Ala177Val) rs144821595 0.00004
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.686-1335T>A rs1156278971 0.00001
NM_000505.4(F12):c.1599A>G (p.Ser533=) rs1424350386 0.00001
NM_000062.3(SERPING1):c.1030-1198G>T rs2508443
NM_000062.3(SERPING1):c.51+612GT[8] rs3054018
NM_000062.3(SERPING1):c.551-156A>G rs1945351209
NM_000062.3(SERPING1):c.551-495A>C rs28362948
NM_000062.3(SERPING1):c.686-1333A>T rs1945388566
NM_000062.3(SERPING1):c.686-1488_686-1487insT rs1945386835
NM_000062.3(SERPING1):c.890-14C>G rs2135318127
NM_000505.4(F12):c.1025C>T (p.Pro342Leu) rs2230939
NM_000505.4(F12):c.1530G>C (p.Glu510Asp) rs1763185944
NM_000505.4(F12):c.1768T>G (p.Cys590Gly) rs1157280571
NM_000505.4(F12):c.983C>A (p.Thr328Lys) rs118204456

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