ClinVar Miner

List of variants studied for prekallikrein deficiency

Included ClinVar conditions (2):
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000892.5(KLKB1):c.428G>A (p.Ser143Asn) rs3733402 0.59489
NM_000892.5(KLKB1):c.1072A>G (p.Thr358Ala) rs4253379 0.01167
NM_000892.5(KLKB1):c.519A>G (p.Gly173=) rs4253350 0.01158
NM_000892.5(KLKB1):c.808A>G (p.Thr270Ala) rs113884104 0.00344
NM_000892.5(KLKB1):c.1643G>A (p.Cys548Tyr) rs121964951 0.00029
NM_000892.5(KLKB1):c.337C>T (p.Arg113Ter) rs121964949 0.00004
NM_000892.5(KLKB1):c.1259G>A (p.Gly420Glu) rs186254196 0.00001
NM_000892.5(KLKB1):c.-2+1G>C rs954965096
NM_000892.5(KLKB1):c.1196G>A (p.Trp399Ter) rs1303557405
NM_000892.5(KLKB1):c.1204_1205del (p.Trp402fs) rs768319200
NM_000892.5(KLKB1):c.1205G>A (p.Trp402Ter) rs121964950
NM_000892.5(KLKB1):c.143_221+128del
NM_000892.5(KLKB1):c.1581G>C (p.Glu527Asp)
NM_000892.5(KLKB1):c.367G>A (p.Gly123Arg) rs121964952
NM_000892.5(KLKB1):c.451dup (p.Ser151fs) rs560588447
NM_000892.5(KLKB1):c.689T>A (p.Ile230Asn) rs142420360
NM_000892.5(KLKB1):c.870del (p.Glu290fs)
NM_000892.5(KLKB1):c.940G>T (p.Gly314Ter)

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