List of variants reported as pathogenic for hematologic disorder by Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)	rs587776889	0.00002
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)	rs1463495909	0.00001
NM_000061.3(BTK):c.1349+1G>A	rs2147428155
NM_000061.3(BTK):c.1781G>A (p.Gly594Glu)	rs2147424186
NM_000211.5(ITGB2):c.1657+1G>T	rs2146499719
NM_000397.4(CYBB):c.1271G>A (p.Trp424Ter)	rs2146818057
NM_000397.4(CYBB):c.190T>C (p.Cys64Arg)	rs2146804063
NM_000397.4(CYBB):c.752G>A (p.Trp251Ter)	rs2146813725
NM_001375808.2(LPIN2):c.1691_1694del (p.Arg564fs)	rs771295943
NM_001375808.2(LPIN2):c.2327+1G>C	rs80338808
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg)	rs137854451
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)	rs397518423

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