ClinVar Miner

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

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_002049.4(GATA1):c.1046T>C (p.Val349Ala) rs146196033 0.00007
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.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.658A>C (p.Thr220Pro)
NM_002049.4(GATA1):c.670C>A (p.Leu224Ile)
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)

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