ClinVar Miner

List of variants in gene F12 studied for Factor XII deficiency disease; Hereditary angioedema type 3

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000505.4(F12):c.398-12C>T	rs56285942	0.00495
NC_000005.10:g.177409584C>G	rs41309132	0.00297
NM_000505.4(F12):c.-62C>T	rs187018744	0.00222
NM_000505.4(F12):c.983C>A (p.Thr328Lys)	rs118204456	0.00001

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