ClinVar Miner

List of variants in gene GATA1 reported as uncertain significance for anemia

Included ClinVar conditions (292):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 121
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002049.4(GATA1):c.1046T>C (p.Val349Ala) rs146196033 0.00007
NM_002049.4(GATA1):c.94G>A (p.Val32Ile) rs782698349 0.00005
NM_002049.4(GATA1):c.982G>A (p.Glu328Lys) rs1418790540 0.00004
NM_002049.4(GATA1):c.1024G>A (p.Gly342Ser) rs1340713003 0.00003
NM_002049.4(GATA1):c.950G>A (p.Arg317Gln) rs782236381 0.00003
NM_002049.4(GATA1):c.302C>T (p.Thr101Met) rs200599207 0.00002
NM_002049.4(GATA1):c.419G>A (p.Arg140Gln) rs997764249 0.00002
NM_002049.4(GATA1):c.482G>C (p.Ser161Thr) rs782651118 0.00002
NM_002049.4(GATA1):c.821G>A (p.Ser274Asn) rs374457234 0.00002
NM_002049.4(GATA1):c.1232T>C (p.Leu411Pro) rs1460124191 0.00001
NM_002049.4(GATA1):c.221-4A>G rs782150782 0.00001
NM_002049.4(GATA1):c.283G>A (p.Gly95Ser) rs782790256 0.00001
NM_002049.4(GATA1):c.337C>T (p.Arg113Cys) rs782263736 0.00001
NM_002049.4(GATA1):c.343G>T (p.Asp115Tyr) rs914292956 0.00001
NM_002049.4(GATA1):c.373G>A (p.Asp125Asn) rs782411113 0.00001
NM_002049.4(GATA1):c.485C>T (p.Ala162Val) rs1177167183 0.00001
NM_002049.4(GATA1):c.727C>T (p.Arg243Trp) rs782632688 0.00001
NM_002049.4(GATA1):c.889A>T (p.Met297Leu) rs1569499699 0.00001
NC_000023.10:g.(?_48649517)_(48652571_?)dup
NM_002049.4(GATA1):c.1005G>A (p.Met335Ile)
NM_002049.4(GATA1):c.1019G>A (p.Gly340Asp)
NM_002049.4(GATA1):c.1030G>A (p.Gly344Arg)
NM_002049.4(GATA1):c.1036T>C (p.Cys346Arg) rs2147307619
NM_002049.4(GATA1):c.1043A>C (p.Glu348Ala)
NM_002049.4(GATA1):c.1066G>A (p.Gly356Ser)
NM_002049.4(GATA1):c.1067G>T (p.Gly356Val) rs202091014
NM_002049.4(GATA1):c.107C>T (p.Ser36Phe)
NM_002049.4(GATA1):c.1092C>G (p.Tyr364Ter) rs1557020612
NM_002049.4(GATA1):c.1096G>A (p.Gly366Ser)
NM_002049.4(GATA1):c.1097G>T (p.Gly366Val)
NM_002049.4(GATA1):c.1102G>A (p.Gly368Ser)
NM_002049.4(GATA1):c.1102G>C (p.Gly368Arg)
NM_002049.4(GATA1):c.1135C>G (p.Leu379Val)
NM_002049.4(GATA1):c.1160T>C (p.Leu387Pro)
NM_002049.4(GATA1):c.1168C>G (p.Pro390Ala)
NM_002049.4(GATA1):c.1175G>A (p.Gly392Asp)
NM_002049.4(GATA1):c.1177T>C (p.Ser393Pro) rs2147307800
NM_002049.4(GATA1):c.117G>A (p.Glu39=)
NM_002049.4(GATA1):c.1191C>T (p.Gly397=)
NM_002049.4(GATA1):c.1196T>C (p.Met399Thr)
NM_002049.4(GATA1):c.1197G>A (p.Met399Ile)
NM_002049.4(GATA1):c.1198C>T (p.Pro400Ser)
NM_002049.4(GATA1):c.1200_1217del (p.Pro401_Thr406del)
NM_002049.4(GATA1):c.1201C>A (p.Pro401Thr)
NM_002049.4(GATA1):c.1229C>T (p.Pro410Leu)
NM_002049.4(GATA1):c.122T>G (p.Leu41Trp)
NM_002049.4(GATA1):c.143C>A (p.Thr48Asn)
NM_002049.4(GATA1):c.145G>A (p.Ala49Thr) rs781856701
NM_002049.4(GATA1):c.149C>G (p.Pro50Arg)
NM_002049.4(GATA1):c.152G>A (p.Ser51Asn) rs2062674054
NM_002049.4(GATA1):c.160A>T (p.Thr54Ser)
NM_002049.4(GATA1):c.162_164del (p.Ala59del)
NM_002049.4(GATA1):c.164C>T (p.Ala55Val)
NM_002049.4(GATA1):c.166G>A (p.Ala56Thr)
NM_002049.4(GATA1):c.196G>C (p.Ala66Pro) rs149753411
NM_002049.4(GATA1):c.19G>C (p.Gly7Arg)
NM_002049.4(GATA1):c.209G>C (p.Arg70Thr)
NM_002049.4(GATA1):c.211C>T (p.His71Tyr) rs2147305769
NM_002049.4(GATA1):c.220+5C>T
NM_002049.4(GATA1):c.220G>A (p.Val74Ile)
NM_002049.4(GATA1):c.221-3C>T
NM_002049.4(GATA1):c.224T>G (p.Phe75Cys)
NM_002049.4(GATA1):c.230T>G (p.Val77Gly) rs2147306078
NM_002049.4(GATA1):c.251T>C (p.Met84Thr)
NM_002049.4(GATA1):c.253G>A (p.Glu85Lys)
NM_002049.4(GATA1):c.256G>A (p.Gly86Arg)
NM_002049.4(GATA1):c.265G>A (p.Gly89Arg)
NM_002049.4(GATA1):c.290C>T (p.Ala97Val) rs2147306181
NM_002049.4(GATA1):c.300G>C (p.Lys100Asn)
NM_002049.4(GATA1):c.308T>C (p.Leu103Pro)
NM_002049.4(GATA1):c.322A>T (p.Thr108Ser)
NM_002049.4(GATA1):c.340G>A (p.Glu114Lys)
NM_002049.4(GATA1):c.347C>G (p.Ser116Cys)
NM_002049.4(GATA1):c.413C>T (p.Thr138Ile) rs2147306456
NM_002049.4(GATA1):c.416A>G (p.Glu139Gly)
NM_002049.4(GATA1):c.41C>A (p.Pro14His)
NM_002049.4(GATA1):c.41C>T (p.Pro14Leu)
NM_002049.4(GATA1):c.428C>T (p.Pro143Leu)
NM_002049.4(GATA1):c.446G>A (p.Gly149Glu)
NM_002049.4(GATA1):c.480T>G (p.Asn160Lys) rs143332634
NM_002049.4(GATA1):c.484G>A (p.Ala162Thr)
NM_002049.4(GATA1):c.494G>A (p.Gly165Asp)
NM_002049.4(GATA1):c.510T>G (p.Ser170Arg)
NM_002049.4(GATA1):c.51G>C (p.Gln17His)
NM_002049.4(GATA1):c.529G>A (p.Gly177Arg) rs1482381233
NM_002049.4(GATA1):c.548C>T (p.Ala183Val)
NM_002049.4(GATA1):c.550_551delinsAA (p.Ala184Asn)
NM_002049.4(GATA1):c.572G>A (p.Arg191His)
NM_002049.4(GATA1):c.580C>G (p.Leu194Val)
NM_002049.4(GATA1):c.595T>C (p.Cys199Arg) rs782750237
NM_002049.4(GATA1):c.599A>C (p.Glu200Ala)
NM_002049.4(GATA1):c.618C>A (p.Asn206Lys)
NM_002049.4(GATA1):c.61C>T (p.Pro21Ser)
NM_002049.4(GATA1):c.622G>A (p.Gly208Arg) rs587776454
NM_002049.4(GATA1):c.623G>C (p.Gly208Ala)
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn) rs104894808
NM_002049.4(GATA1):c.658A>C (p.Thr220Pro)
NM_002049.4(GATA1):c.670C>A (p.Leu224Ile)
NM_002049.4(GATA1):c.679G>A (p.Ala227Thr)
NM_002049.4(GATA1):c.68T>G (p.Leu23Arg)
NM_002049.4(GATA1):c.725T>C (p.Ile242Thr)
NM_002049.4(GATA1):c.734A>G (p.Lys245Arg)
NM_002049.4(GATA1):c.736A>C (p.Lys246Gln)
NM_002049.4(GATA1):c.737A>G (p.Lys246Arg)
NM_002049.4(GATA1):c.752_754delinsTT (p.Ser251fs) rs1602220695
NM_002049.4(GATA1):c.757C>T (p.Arg253Trp)
NM_002049.4(GATA1):c.766A>G (p.Thr256Ala)
NM_002049.4(GATA1):c.797C>T (p.Thr266Met)
NM_002049.4(GATA1):c.80C>T (p.Thr27Ile)
NM_002049.4(GATA1):c.821G>T (p.Ser274Ile)
NM_002049.4(GATA1):c.832G>A (p.Val278Met)
NM_002049.4(GATA1):c.884T>C (p.Leu295Pro)
NM_002049.4(GATA1):c.892C>T (p.Arg298Trp) rs1060501251
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln) rs2147307511
NM_002049.4(GATA1):c.911C>T (p.Thr304Ile)
NM_002049.4(GATA1):c.919C>T (p.Arg307Cys) rs1057518396
NM_002049.4(GATA1):c.920G>A (p.Arg307His) rs1557020556
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg) rs782326935
NM_002049.4(GATA1):c.971C>T (p.Thr324Ile)
NM_002049.4(GATA1):c.976G>A (p.Ala326Thr)
NM_002049.4(GATA1):c.992C>A (p.Ala331Asp)

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.