List of variants reported as pathogenic for Factor XII deficiency disease

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000505.4(F12):c.1681-1G>A	rs199988476	0.00036
NM_000505.4(F12):c.158A>G (p.Tyr53Cys)	rs118204455	0.00001
NM_000505.4(F12):c.1570del (p.Val524fs)
NM_000505.4(F12):c.303_304del (p.His101fs)
NM_000505.4(F12):c.983C>G (p.Thr328Arg)	rs118204456

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