List of variants in gene GATA1 studied for immune system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
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.154_173dup (p.Ala59fs)	rs398124628
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

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