List of variants in gene GATA2 reported as likely pathogenic by PreventionGenetics, part of Exact Sciences

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys)	rs1426175410	0.00001
NM_032638.5(GATA2):c.1018-2A>C	rs1576745322
NM_032638.5(GATA2):c.1021del (p.Ala341fs)	rs1576745308
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter)	rs1313081073
NM_032638.5(GATA2):c.1144-1G>C	rs1576744604
NM_032638.5(GATA2):c.1159_1160dup (p.Met388fs)	rs1576744575
NM_032638.5(GATA2):c.1186C>G (p.Arg396Gly)	rs1576744529
NM_032638.5(GATA2):c.405_409delinsGTA (p.Gly136fs)	rs1576749014
NM_032638.5(GATA2):c.554_628delinsTAGCACCACGGGGGCT (p.Pro185fs)	rs1576748609
NM_032638.5(GATA2):c.649_653dup (p.Thr218_Glu219insTer)	rs1553770949
NM_032638.5(GATA2):c.655dup (p.Glu219fs)	rs1576748582
NM_032638.5(GATA2):c.802G>T (p.Gly268Ter)	rs764747992
NM_032638.5(GATA2):c.844C>T (p.Gln282Ter)	rs1576748357
NM_032638.5(GATA2):c.890del (p.Asn297fs)	rs1576746931

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