ClinVar Miner

List of variants reported as pathogenic for GATA2 deficiency with susceptibility to MDS/AML by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (6):

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_032638.5(GATA2):c.1078T>A (p.Trp360Arg)	rs2107668680
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter)	rs1553770510
NM_032638.5(GATA2):c.161C>A (p.Ser54Ter)	rs2107673501

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