List of variants reported as pathogenic for hematologic disorder by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)	rs6025	0.01762
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)	rs73015965	0.00282
NM_019616.4(F7):c.1025G>A (p.Arg342Gln)	rs121964926	0.00118
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)	rs62541771	0.00011
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)	rs80358721	0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter)	rs368615806	0.00004
NM_021871.4(FGA):c.502C>T (p.Arg168Ter)	rs755117226	0.00002
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)	rs1484087361
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)	rs397507553
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)	rs33946267
NM_000518.5(HBB):c.27dup (p.Ser10fs)	rs35699606
NM_001754.5(RUNX1):c.497G>A (p.Arg166Gln)	rs1060499616

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