List of variants reported as pathogenic for hematologic disorder by Klein lab, Ludwig-Maximilians-University

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)	rs587777727	0.00003
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg)	rs587777730	0.00001
NM_032492.4(JAGN1):c.59G>A (p.Arg20Gln)	rs777966677	0.00001
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys)	rs606231473
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr)	rs587777728
NM_032492.4(JAGN1):c.297C>G (p.Tyr99Ter)	rs786205705
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)	rs587777731
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser)	rs786205704
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp)	rs587777729
NM_156039.3(CSF3R):c.[1245delG];[948_963del16]

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