ClinVar Miner

List of variants reported as uncertain significance for deafness-lymphedema-leukemia syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP
NM_001145661.2(GATA2):c.*101G>A rs886057926
NM_001145661.2(GATA2):c.*1144G>A rs886057923
NM_001145661.2(GATA2):c.*1173G>T rs779730117
NM_001145661.2(GATA2):c.*1543T>C rs886057922
NM_001145661.2(GATA2):c.*1544A>G rs886057921
NM_001145661.2(GATA2):c.*174G>A rs373617135
NM_001145661.2(GATA2):c.*190C>T rs112947643
NM_001145661.2(GATA2):c.*32C>T rs374495352
NM_001145661.2(GATA2):c.*420G>A rs557984557
NM_001145661.2(GATA2):c.*479_*481CTC[1] rs886057925
NM_001145661.2(GATA2):c.*570C>T rs868031897
NM_001145661.2(GATA2):c.*73C>T rs886057928
NM_001145661.2(GATA2):c.*84A>G rs886057927
NM_001145661.2(GATA2):c.*884A>T rs886057924
NM_001145661.2(GATA2):c.-42C>G rs886057933
NM_001145661.2(GATA2):c.-5C>T rs374415484
NM_001145661.2(GATA2):c.1023C>T (p.Ala341=) rs376360090
NM_001145661.2(GATA2):c.121C>G (p.Pro41Ala) rs143590990
NM_001145661.2(GATA2):c.1230G>T (p.Gly410=) rs1461907039
NM_001145661.2(GATA2):c.1286G>C (p.Ser429Thr) rs201155045
NM_001145661.2(GATA2):c.1326C>T (p.His442=) rs886057929
NM_001145661.2(GATA2):c.1347C>A (p.Ser449=) rs150052821
NM_001145661.2(GATA2):c.1416G>A (p.Pro472=) rs376805544
NM_001145661.2(GATA2):c.204G>T (p.Ala68=) rs886057932
NM_001145661.2(GATA2):c.413T>C (p.Leu138Pro) rs746362966
NM_001145661.2(GATA2):c.724A>G (p.Thr242Ala) rs886057931
NM_001145661.2(GATA2):c.800C>T (p.Pro267Leu) rs886057930
NM_032638.4(GATA2):c.-180C>A rs886057934
NM_032638.4(GATA2):c.-193C>T rs886057935
NM_032638.4(GATA2):c.-215C>T rs886057936
NM_032638.5(GATA2):c.*1002G>T
NM_032638.5(GATA2):c.*1146A>G
NM_032638.5(GATA2):c.*13C>T
NM_032638.5(GATA2):c.*1418G>T
NM_032638.5(GATA2):c.*1522A>G
NM_032638.5(GATA2):c.*352C>T
NM_032638.5(GATA2):c.*379C>T
NM_032638.5(GATA2):c.*418G>A
NM_032638.5(GATA2):c.*457G>A
NM_032638.5(GATA2):c.*581G>A
NM_032638.5(GATA2):c.*988T>G
NM_032638.5(GATA2):c.-114C>T
NM_032638.5(GATA2):c.-214G>A
NM_032638.5(GATA2):c.-42C>T
NM_032638.5(GATA2):c.101T>G (p.Met34Arg)
NM_032638.5(GATA2):c.315C>G (p.Leu105=) rs750545562
NM_032638.5(GATA2):c.398G>T (p.Gly133Val)
NM_032638.5(GATA2):c.607G>C (p.Ala203Pro)
NM_032638.5(GATA2):c.999C>T (p.Ile333=)

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