ClinVar Miner

List of variants reported as likely benign for angioedema by Illumina Laboratory Services, Illumina

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933 0.02221
NM_000505.4(F12):c.1342C>T (p.Arg448Cys) rs115119084 0.00679
NM_003052.5(SLC34A1):c.*485G>A rs143160780 0.00504
NM_000505.4(F12):c.1272G>C (p.Thr424=) rs61737766 0.00486
NM_000505.3(F12):c.-57G>C rs41309132 0.00297
NM_003052.5(SLC34A1):c.*179G>A rs141664220 0.00237
NM_000505.4(F12):c.-62C>T rs187018744 0.00223
NM_003052.5(SLC34A1):c.*361T>C rs539754545 0.00096
NM_000062.3(SERPING1):c.5C>T (p.Ala2Val) rs185342631 0.00094
NM_000505.4(F12):c.1299C>T (p.Asn433=) rs17876033 0.00093
NM_000062.3(SERPING1):c.465C>T (p.His155=) rs201627388 0.00049
NM_000062.3(SERPING1):c.550+9C>G rs201294420 0.00046
NM_000505.4(F12):c.-8C>T rs369991760 0.00032
NM_000062.3(SERPING1):c.686-5C>G rs28362952 0.00022
NM_000062.3(SERPING1):c.1164G>A (p.Met388Ile) rs141529833 0.00016
NM_000505.4(F12):c.1387+4C>G rs761161412 0.00014
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
NM_000505.4(F12):c.-3G>A rs201346142 0.00011
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) rs199565633 0.00010
NM_000062.3(SERPING1):c.244A>T (p.Thr82Ser) rs147409450 0.00006
NM_000062.3(SERPING1):c.169G>A (p.Glu57Lys) rs752993036 0.00004
NM_000505.4(F12):c.129C>T (p.Thr43=) rs201546796 0.00004
NM_000062.3(SERPING1):c.1434C>T (p.Leu478=) rs768058061 0.00002
NM_000505.4(F12):c.293G>A (p.Cys98Tyr) rs770412757 0.00001
NM_000062.2(SERPING1):c.-99dup rs28362939
NM_000505.4(F12):c.1251-7C>T rs375340260

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