ClinVar Miner

List of variants reported as uncertain significance for angioedema by Illumina Laboratory Services, Illumina

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000062.3(SERPING1):c.-36A>T rs761350979 0.00032
NM_000062.3(SERPING1):c.*66T>C rs899262177 0.00024
NM_000062.2(SERPING1):c.-99C>G rs866115469 0.00010
NM_000505.4(F12):c.1212C>G (p.Pro404=) rs756802257 0.00005
NM_000062.3(SERPING1):c.117C>G (p.Asp39Glu) rs11229062 0.00004
NM_000505.4(F12):c.1018+14G>T rs779057710 0.00003
NM_000505.4(F12):c.1251-12C>A rs747726864 0.00003
NM_000505.4(F12):c.630C>T (p.Asp210=) rs886060471 0.00003
NM_000505.4(F12):c.928A>T (p.Arg310Trp) rs749549919 0.00003
NM_000062.3(SERPING1):c.227C>T (p.Thr76Ile) rs182779591 0.00002
NM_000062.3(SERPING1):c.981C>T (p.Ser327=) rs1433680488 0.00002
NM_000062.2(SERPING1):c.-94C>G rs1190911080 0.00001
NM_000062.3(SERPING1):c.135C>T (p.Val45=) rs886048399 0.00001
NM_000062.3(SERPING1):c.285C>A (p.Thr95=) rs886048400 0.00001
NM_000062.3(SERPING1):c.330A>G (p.Pro110=) rs1371887844 0.00001
NM_000062.3(SERPING1):c.721C>T (p.Arg241Trp) rs145436911 0.00001
NM_000505.4(F12):c.*86C>T rs777897437 0.00001
NM_000505.4(F12):c.*9G>A rs1763150862 0.00001
NM_000505.4(F12):c.158A>G (p.Tyr53Cys) rs118204455 0.00001
NM_000505.4(F12):c.30G>A (p.Leu10=) rs745617919 0.00001
NM_000062.2(SERPING1):c.-100C>G rs578018379
NM_000062.2(SERPING1):c.-105C>A rs886048397
NM_000062.3(SERPING1):c.-56T>G rs886048398
NM_000062.3(SERPING1):c.1409T>A (p.Val470Asp) rs1590831488
NM_000062.3(SERPING1):c.293C>T (p.Pro98Leu) rs1945331471
NM_000062.3(SERPING1):c.497A>C (p.Asn166Thr) rs1945333871
NM_000062.3(SERPING1):c.856C>G (p.Arg286Gly) rs1392305191
NM_000062.3(SERPING1):c.872A>G (p.Asn291Ser) rs754401203
NM_000505.4(F12):c.-25G>A rs886060472
NM_000505.4(F12):c.1142G>A (p.Arg381His) rs1763214147
NM_000505.4(F12):c.286+6A>G rs1763273226
NM_000505.4(F12):c.957G>C (p.Gln319His) rs1763225226

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