ClinVar Miner

List of variants reported as pathogenic for angioedema by OMIM

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
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.1249+1G>T rs112565881
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.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.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.597C>G (p.Tyr199Ter) rs121907951
NM_000062.3(SERPING1):c.646delinsTCAGTGTCGTG (p.Lys216delinsSerValSerTer) rs1554995271
NM_000301.5(PLG):c.2183T>A (p.Val728Glu) rs1582955358
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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