ClinVar Miner

List of variants reported as benign for GATA2 deficiency with susceptibility to MDS/AML by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_001145661.2(GATA2):c.*183C>T rs45598538
NM_001145661.2(GATA2):c.1143+203A>G rs2713604
NM_001145661.2(GATA2):c.114G>A (p.Gln38=) rs775573177
NM_001145661.2(GATA2):c.1173A>G (p.Glu391=) rs145076941
NM_001145661.2(GATA2):c.1416G>A (p.Pro472=) rs376805544
NM_001145661.2(GATA2):c.1431C>T (p.Thr477=) rs754297885
NM_001145661.2(GATA2):c.279G>A (p.Pro93=) rs142993548
NM_001145661.2(GATA2):c.333C>T (p.His111=) rs148554346
NM_001145661.2(GATA2):c.480C>T (p.Thr160=) rs199640729
NM_001145661.2(GATA2):c.481C>G (p.Pro161Ala) rs34799090
NM_001145661.2(GATA2):c.564G>C (p.Thr188=) rs34870876
NM_001145661.2(GATA2):c.66C>G (p.Pro22=) rs113384352
NM_001145661.2(GATA2):c.710G>A (p.Gly237Asp) rs191501191
NM_001145661.2(GATA2):c.748C>G (p.Pro250Ala) rs78245253
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218

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