Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs869320668
rs869320668
GATA2
1.000 0.040 3 128481945 splice acceptor variant C/A snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.700 0
dbSNP: rs869320734
rs869320734
GATA2
1.000 0.040 3 128481867 inframe deletion TTGGCGTTTCGG/- delins
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.700 0
dbSNP: rs869320735
rs869320735
GATA2
1.000 0.040 3 128486355 frameshift variant T/GC delins
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.700 0
dbSNP: rs869320770
rs869320770
GATA2
0.925 0.040 3 128481937 splice acceptor variant -/GCCG delins
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.700 0
dbSNP: rs869320770
rs869320770
GATA2
0.925 0.040 3 128481937 splice acceptor variant -/GCCG delins
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.700 0
dbSNP: rs1553770978
rs1553770978
GATA2
1.000 0.040 3 128486072 missense variant T/G snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.700 1.000 1 2018 2018
dbSNP: rs867160952
rs867160952
GATA2
1.000 0.040 3 128481877 missense variant C/T snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.700 1.000 1 2011 2011
dbSNP: rs387906631
rs387906631
GATA2
0.882 0.080 3 128481901 missense variant G/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.720 1.000 2 2011 2012
dbSNP: rs387906629
rs387906629
GATA2
0.925 0.080 3 128481270 missense variant G/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 2 2011 2012
dbSNP: rs387906632
rs387906632
GATA2
0.925 0.040 3 128483868 stop gained G/A snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.700 1.000 3 2011 2017
dbSNP: rs387906632
rs387906632
GATA2
0.925 0.040 3 128483868 stop gained G/A snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.700 1.000 3 2011 2017
dbSNP: rs387906631
rs387906631
GATA2
0.882 0.080 3 128481901 missense variant G/A snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.800 1.000 4 2011 2015
dbSNP: rs1559985787
rs1559985787
GATA2
0.925 0.040 3 128483288 intron variant G/A snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.700 1.000 4 2013 2016
dbSNP: rs1559985787
rs1559985787
GATA2
0.925 0.040 3 128483288 intron variant G/A snv
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.700 1.000 4 2013 2016
dbSNP: rs387906631
rs387906631
GATA2
0.882 0.080 3 128481901 missense variant G/A snv
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.700 1.000 4 2011 2015
dbSNP: rs1426175410
rs1426175410
GATA2
0.925 0.040 3 128481881 missense variant G/A;C snv 7.0E-06
CUI: C3279664
Disease: Emberger Syndrome
Emberger Syndrome 		0.700 1.000 7 2011 2016
dbSNP: rs1426175410
rs1426175410
GATA2
0.925 0.040 3 128481881 missense variant G/A;C snv 7.0E-06
CUI: C3280030
Disease: GATA2 Deficiency
GATA2 Deficiency 		0.700 1.000 7 2011 2016