ClinVar Miner

List of variants studied for angioedema by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000301.5(PLG):c.1380T>A (p.Ser460Arg) rs116573785 0.01344
NM_000301.5(PLG):c.1567C>T (p.Arg523Trp) rs4252129 0.00772
NM_000505.4(F12):c.398-12C>T rs56285942 0.00495
NM_000505.4(F12):c.1272G>C (p.Thr424=) rs61737766 0.00486
NM_000301.5(PLG):c.1281G>A (p.Arg427=) rs149909079 0.00373
NM_000505.3(F12):c.-57G>C rs41309132 0.00297
NM_000301.5(PLG):c.1431C>T (p.Ser477=) rs4699 0.00248
NM_000505.4(F12):c.-62C>T rs187018744 0.00223
NM_000301.5(PLG):c.1803-17C>A rs201530084 0.00180
NM_000301.5(PLG):c.1962G>T (p.Val654=) rs4252196 0.00147
NM_000301.5(PLG):c.514A>G (p.Arg172Gly) rs145535174 0.00039
NM_000301.5(PLG):c.1735G>A (p.Gly579Arg) rs138728014 0.00027
NM_000301.5(PLG):c.2134G>A (p.Gly712Arg) rs202074006 0.00022
NM_000301.5(PLG):c.317G>C (p.Gly106Ala) rs778599053 0.00016
NM_000301.5(PLG):c.36A>G (p.Leu12=) rs371469289 0.00014
NM_000301.5(PLG):c.1468C>A (p.Arg490=) rs367707054 0.00010
NM_000301.5(PLG):c.1997T>C (p.Ile666Thr) rs764647453 0.00010
NM_000062.3(SERPING1):c.997G>A (p.Ala333Thr) rs202192543 0.00009
NM_000301.5(PLG):c.2087G>A (p.Arg696Gln) rs147930532 0.00009
NM_000301.5(PLG):c.505C>A (p.Pro169Thr) rs143256245 0.00009
NM_000301.5(PLG):c.115A>C (p.Lys39Gln) rs138353396 0.00008
NM_000301.5(PLG):c.669-3C>G rs368764348 0.00007
NM_000301.5(PLG):c.1722G>A (p.Pro574=) rs146030266 0.00006
NM_000301.5(PLG):c.646G>A (p.Ala216Thr) rs374234922 0.00006
NM_000301.5(PLG):c.368C>T (p.Thr123Ile) rs370856655 0.00004
NM_000301.5(PLG):c.1394C>T (p.Pro465Leu) rs374995543 0.00003
NM_000301.5(PLG):c.17T>C (p.Val6Ala) rs764121149 0.00002
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) rs121907948
NM_000301.5(PLG):c.1329C>A (p.Ser443Arg) rs756670030
NM_000301.5(PLG):c.1657G>A (p.Asp553Asn) rs182937977
NM_000301.5(PLG):c.185+14C>A rs369616302
NM_000301.5(PLG):c.266G>C (p.Arg89Thr) rs143079629
NM_000301.5(PLG):c.466G>A (p.Asp156Asn) rs756533019
NM_000301.5(PLG):c.745G>A (p.Asp249Asn) rs532027310
NM_000301.5(PLG):c.814A>G (p.Thr272Ala) rs754598185
NM_000301.5(PLG):c.848A>G (p.Tyr283Cys) rs2115163630
NM_000505.4(F12):c.983C>A (p.Thr328Lys) rs118204456

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