ClinVar Miner

List of variants studied for Prekallikrein deficiency by OMIM

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Total variants: 5
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HGVS dbSNP
NM_000892.5(KLKB1):c.1205G>A (p.Trp402Ter) rs121964950
NM_000892.5(KLKB1):c.1643G>A (p.Cys548Tyr) rs121964951
NM_000892.5(KLKB1):c.337C>T (p.Arg113Ter) rs121964949
NM_000892.5(KLKB1):c.367G>A (p.Gly123Arg) rs121964952
NM_000892.5(KLKB1):c.428G>A (p.Ser143Asn) rs3733402

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