ClinVar Miner

List of variants reported as uncertain significance for C1 inhibitor deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):

Hereditary angioedema type 1; C1 inhibitor deficiency

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000062.3(SERPING1):c.997G>A (p.Ala333Thr)	rs202192543	0.00009
NM_000062.3(SERPING1):c.155A>G (p.Lys52Arg)	rs766862937	0.00001
NM_000062.3(SERPING1):c.884T>C (p.Leu295Pro)	rs2495441308

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