ClinVar Miner

List of variants reported as likely 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: 78
Download table as spreadsheet
HGVS dbSNP
NM_001145661.2(GATA2):c.1017+8C>T rs200848213
NM_001145661.2(GATA2):c.1018-5C>T rs769196688
NM_001145661.2(GATA2):c.1023C>T (p.Ala341=) rs376360090
NM_001145661.2(GATA2):c.1035C>G (p.Ala345=) rs371599112
NM_001145661.2(GATA2):c.1035C>T (p.Ala345=) rs371599112
NM_001145661.2(GATA2):c.108C>G (p.Pro36=) rs1553771148
NM_001145661.2(GATA2):c.1095C>T (p.Asn365=) rs146814201
NM_001145661.2(GATA2):c.1113C>T (p.Asn371=) rs376003468
NM_001145661.2(GATA2):c.1128C>T (p.Tyr376=) rs750890699
NM_001145661.2(GATA2):c.1143+9G>A rs533617078
NM_001145661.2(GATA2):c.1185T>C (p.Thr395=) rs771739064
NM_001145661.2(GATA2):c.121C>G (p.Pro41Ala) rs143590990
NM_001145661.2(GATA2):c.1286G>C (p.Ser429Thr) rs201155045
NM_001145661.2(GATA2):c.1302T>G (p.Ala434=) rs971128233
NM_001145661.2(GATA2):c.1326C>T (p.His442=) rs886057929
NM_001145661.2(GATA2):c.1329C>G (p.Leu443=) rs769577309
NM_001145661.2(GATA2):c.1359G>A (p.Leu453=) rs878855168
NM_001145661.2(GATA2):c.1380C>T (p.His460=) rs1033366779
NM_001145661.2(GATA2):c.1428G>A (p.Val476=) rs1553770387
NM_001145661.2(GATA2):c.153C>T (p.His51=) rs1416891061
NM_001145661.2(GATA2):c.156C>G (p.Leu52=) rs201821076
NM_001145661.2(GATA2):c.177C>T (p.Tyr59=) rs146150325
NM_001145661.2(GATA2):c.204G>T (p.Ala68=) rs886057932
NM_001145661.2(GATA2):c.208G>T (p.Val70Phe) rs570531959
NM_001145661.2(GATA2):c.213C>T (p.Ser71=) rs759513417
NM_001145661.2(GATA2):c.255C>T (p.Cys85=) rs1553771065
NM_001145661.2(GATA2):c.279G>T (p.Pro93=) rs142993548
NM_001145661.2(GATA2):c.363C>T (p.Phe121=) rs1352824690
NM_001145661.2(GATA2):c.375A>C (p.Pro125=) rs763281230
NM_001145661.2(GATA2):c.423C>T (p.Tyr141=) rs781744898
NM_001145661.2(GATA2):c.42G>T (p.Pro14=) rs372722885
NM_001145661.2(GATA2):c.445G>A (p.Gly149Arg) rs753645971
NM_001145661.2(GATA2):c.45C>G (p.Ala15=) rs1278414376
NM_001145661.2(GATA2):c.639C>T (p.Tyr213=) rs372455331
NM_001145661.2(GATA2):c.63C>T (p.His21=) rs535362527
NM_001145661.2(GATA2):c.649C>T (p.Leu217=) rs369356562
NM_001145661.2(GATA2):c.657G>A (p.Glu219=) rs138688940
NM_001145661.2(GATA2):c.684C>T (p.Pro228=) rs913494641
NM_001145661.2(GATA2):c.729C>T (p.His243=) rs369673069
NM_001145661.2(GATA2):c.792C>T (p.Leu264=) rs1060503831
NM_001145661.2(GATA2):c.801C>T (p.Pro267=) rs376351188
NM_001145661.2(GATA2):c.888C>T (p.Val296=) rs574218913
NM_001145661.2(GATA2):c.927C>T (p.Asp309=) rs750077677
NM_001145661.2(GATA2):c.933C>T (p.Thr311=) rs774280897
NM_032638.5(GATA2):c.1017+518T>G rs1576746428
NM_032638.5(GATA2):c.1017+525C>T rs916833024
NM_032638.5(GATA2):c.1017+526C>T rs1051590739
NM_032638.5(GATA2):c.1018-10G>A rs1211623638
NM_032638.5(GATA2):c.1018-6_1018-3dup rs1576745326
NM_032638.5(GATA2):c.1053T>C (p.Asn351=) rs544866789
NM_032638.5(GATA2):c.1134G>A (p.Lys378=) rs1397473749
NM_032638.5(GATA2):c.1143+8C>T rs555534597
NM_032638.5(GATA2):c.1206C>T (p.Asn402=) rs376420351
NM_032638.5(GATA2):c.123T>C (p.Pro41=) rs1022734850
NM_032638.5(GATA2):c.1323C>T (p.Gly441=) rs1280205763
NM_032638.5(GATA2):c.1332G>A (p.Pro444=) rs770768777
NM_032638.5(GATA2):c.1347C>T (p.Ser449=) rs150052821
NM_032638.5(GATA2):c.1356C>T (p.Ile452=) rs1576744250
NM_032638.5(GATA2):c.1368G>A (p.Pro456=) rs569990126
NM_032638.5(GATA2):c.1371G>A (p.Thr457=) rs763539605
NM_032638.5(GATA2):c.1401C>T (p.Phe467=) rs534807053
NM_032638.5(GATA2):c.144C>T (p.Phe48=) rs1576749792
NM_032638.5(GATA2):c.165G>A (p.Gln55=) rs1012472046
NM_032638.5(GATA2):c.183C>T (p.Ala61=) rs1304934410
NM_032638.5(GATA2):c.186C>T (p.Asn62=) rs751200779
NM_032638.5(GATA2):c.189C>T (p.Pro63=) rs763735447
NM_032638.5(GATA2):c.230-12_230-9del rs760230147
NM_032638.5(GATA2):c.279G>C (p.Pro93=) rs142993548
NM_032638.5(GATA2):c.381C>T (p.His127=) rs1576749068
NM_032638.5(GATA2):c.49C>T (p.Leu17=) rs752025757
NM_032638.5(GATA2):c.627C>T (p.Asp209=) rs370923405
NM_032638.5(GATA2):c.753C>T (p.Ser251=) rs1450460950
NM_032638.5(GATA2):c.756T>C (p.Tyr252=) rs750736371
NM_032638.5(GATA2):c.867T>C (p.Cys289=) rs756397780
NM_032638.5(GATA2):c.872-9C>A rs1462260680
NM_032638.5(GATA2):c.90G>C (p.Ala30=) rs768357019
NM_032638.5(GATA2):c.945G>C (p.Leu315=) rs947420881
NM_032638.5(GATA2):c.960C>T (p.Gly320=) rs762957000

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