List of variants in gene KLKB1 reported as pathogenic for hematologic disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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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.1643G>A (p.Cys548Tyr)	rs121964951	0.00029
NM_000892.5(KLKB1):c.337C>T (p.Arg113Ter)	rs121964949	0.00004
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.367G>A (p.Gly123Arg)	rs121964952
NM_000892.5(KLKB1):c.451dup (p.Ser151fs)	rs560588447

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