ClinVar Miner

List of variants reported as uncertain significance for GATA2 deficiency with susceptibility to MDS/AML by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala) rs143590990 0.00064
NM_032638.5(GATA2):c.*352C>T rs938268244 0.00024
NM_032638.5(GATA2):c.1416G>A (p.Pro472=) rs376805544 0.00022
NM_032638.5(GATA2):c.*1544A>G rs886057921 0.00017
NM_032638.5(GATA2):c.*190C>T rs112947643 0.00017
NM_032638.5(GATA2):c.*581G>A rs758714164 0.00016
NM_032638.5(GATA2):c.-193C>T rs886057935 0.00011
NM_032638.5(GATA2):c.*32C>T rs374495352 0.00010
NM_032638.5(GATA2):c.*1146A>G rs776209943 0.00006
NM_032638.5(GATA2):c.*174G>A rs373617135 0.00006
NM_032638.5(GATA2):c.*13C>T rs750895467 0.00004
NM_032638.5(GATA2):c.*570C>T rs868031897 0.00004
NM_032638.5(GATA2):c.413T>C (p.Leu138Pro) rs746362966 0.00004
NM_032638.5(GATA2):c.*988T>G rs1349296825 0.00003
NM_032638.5(GATA2):c.1286G>C (p.Ser429Thr) rs201155045 0.00003
NM_032638.5(GATA2):c.1347C>A (p.Ser449=) rs150052821 0.00003
NM_032638.5(GATA2):c.*101G>A rs886057926 0.00001
NM_032638.5(GATA2):c.*379C>T rs1324129609 0.00001
NM_032638.5(GATA2):c.*420G>A rs557984557 0.00001
NM_032638.5(GATA2):c.*84A>G rs886057927 0.00001
NM_032638.5(GATA2):c.-114C>T rs1283698608 0.00001
NM_032638.5(GATA2):c.1023C>T (p.Ala341=) rs376360090 0.00001
NM_032638.5(GATA2):c.1230G>T (p.Gly410=) rs1461907039 0.00001
NM_032638.5(GATA2):c.1326C>T (p.His442=) rs886057929 0.00001
NM_032638.5(GATA2):c.204G>T (p.Ala68=) rs886057932 0.00001
NM_032638.5(GATA2):c.724A>G (p.Thr242Ala) rs886057931 0.00001
NM_032638.5(GATA2):c.999C>T (p.Ile333=) rs886072363 0.00001
NM_032638.5(GATA2):c.*1002G>T rs977325610
NM_032638.5(GATA2):c.*1144G>A rs886057923
NM_032638.5(GATA2):c.*1173G>T rs779730117
NM_032638.5(GATA2):c.*1418G>T rs905132525
NM_032638.5(GATA2):c.*1522A>G rs2068597449
NM_032638.5(GATA2):c.*1543T>C rs886057922
NM_032638.5(GATA2):c.*418G>A rs2068613223
NM_032638.5(GATA2):c.*457G>A rs2068612595
NM_032638.5(GATA2):c.*479CTC[1] rs886057925
NM_032638.5(GATA2):c.*73C>T rs886057928
NM_032638.5(GATA2):c.*884A>T rs886057924
NM_032638.5(GATA2):c.-180C>A rs886057934
NM_032638.5(GATA2):c.-214G>A rs994244963
NM_032638.5(GATA2):c.-215C>T rs886057936
NM_032638.5(GATA2):c.-42C>G rs886057933
NM_032638.5(GATA2):c.-42C>T rs886057933
NM_032638.5(GATA2):c.-5C>T rs374415484
NM_032638.5(GATA2):c.101T>G (p.Met34Arg) rs1576749857
NM_032638.5(GATA2):c.315C>G (p.Leu105=) rs750545562
NM_032638.5(GATA2):c.398G>T (p.Gly133Val) rs2068696971
NM_032638.5(GATA2):c.607G>C (p.Ala203Pro) rs1353988929
NM_032638.5(GATA2):c.800C>T (p.Pro267Leu) rs886057930

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.