List of variants reported as pathogenic for hematologic disorder by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	rs28940298	0.00010
NM_002049.4(GATA1):c.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG (p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer)	rs2062673859
NM_002049.4(GATA1):c.142_149dup (p.Ser51fs)	rs2062673949
NM_002049.4(GATA1):c.151_186delinsT (p.Ser51fs)	rs2062674043
NM_002049.4(GATA1):c.159_171dup (p.Ala58fs)	rs2062674122
NM_002049.4(GATA1):c.175_193dup (p.Asp65fs)	rs2062674253
NM_002049.4(GATA1):c.219A>G (p.Pro73=)	rs2062674480
NM_002049.4(GATA1):c.219del (p.Val74fs)	rs2062674491
NM_002049.4(GATA1):c.49_50del (p.Gln17fs)	rs2062673530
NM_002049.4(GATA1):c.4dup (p.Glu2fs)	rs2062673272
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter)	rs1557020021
inv(16)(p13.3q24.3)
t(11;12)(p15;p13)
t(11;17)(q23;q12-q21)
t(16;16)(p13.3;q24.3)

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