List of variants reported as likely pathogenic for hematologic disorder by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_005105.5(RBM8A):c.*6C>G	rs12079762	0.04454
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)	rs72553883	0.00518
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00403
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)	rs747253294	0.00034
NM_000211.5(ITGB2):c.817G>A (p.Gly273Arg)	rs137852618	0.00006
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp)	rs149988492	0.00006
NM_002485.5(NBN):c.897-2A>T	rs864622090	0.00003
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter)	rs760126773	0.00001
NM_000061.3(BTK):c.862C>T (p.Arg288Trp)	rs128621194
NM_000135.4(FANCA):c.189+1G>A	rs891323617
NM_000969.5(RPL5):c.122_144del (p.Lys41fs)	rs2100676969
NM_001061.7(TBXAS1):c.580_581del (p.Ala194fs)	rs760698812
NM_001364905.1(LRBA):c.6447_6448del (p.Arg2149fs)	rs1561254290
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)	rs397507531

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