List of variants studied for hematologic disorder by Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000892.5(KLKB1):c.1643G>A (p.Cys548Tyr)	rs121964951	0.00029
NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val)	rs886052997	0.00001
NM_001102416.3(KNG1):c.586C>T (p.Arg196Ter)	rs121918131	0.00001
NM_000174.5(GP9):c.284A>G (p.Tyr95Cys)	rs1946583076
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.143_221+128del
NM_000892.5(KLKB1):c.451dup (p.Ser151fs)	rs560588447
NM_000892.5(KLKB1):c.689T>A (p.Ile230Asn)	rs142420360
NM_001102416.3(KNG1):c.1038+1G>A	rs377594184
NM_001102416.3(KNG1):c.1165C>T (p.Arg389Ter)	rs752411996
NM_001102416.3(KNG1):c.306+2T>A
NM_001102416.3(KNG1):c.718C>T (p.Arg240Ter)	rs761496908
NM_002049.4(GATA1):c.886A>C (p.Thr296Pro)

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