ClinVar Miner

List of variants in gene GATAD2B studied for syndromic intellectual disability

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_020699.4(GATAD2B):c.729+15G>A rs4363451 0.26283
NM_020699.4(GATAD2B):c.1038C>T (p.Ala346=) rs114813239 0.00905
NM_020699.4(GATAD2B):c.676C>G (p.Pro226Ala) rs115193744 0.00573
NM_020699.4(GATAD2B):c.1469C>T (p.Ala490Val) rs145131801 0.00437
NM_020699.4(GATAD2B):c.1229C>G (p.Ala410Gly) rs114542403 0.00178
NM_020699.4(GATAD2B):c.852T>C (p.Leu284=) rs149608942 0.00067
NM_020699.4(GATAD2B):c.415A>G (p.Ser139Gly) rs150914014 0.00046
NM_020699.4(GATAD2B):c.1020C>T (p.Ser340=) rs140272058 0.00040
NM_020699.4(GATAD2B):c.240C>T (p.Asn80=) rs180690623 0.00037
NM_020699.4(GATAD2B):c.1455C>T (p.Leu485=) rs767666551 0.00014
NM_020699.4(GATAD2B):c.1530+14T>C rs574345181 0.00014
NM_020699.4(GATAD2B):c.882C>T (p.Pro294=) rs150972720 0.00006
NM_020699.4(GATAD2B):c.1271G>A (p.Arg424His) rs375391021 0.00002
NM_020699.4(GATAD2B):c.1459C>T (p.Pro487Ser) rs1230061825 0.00001
NM_020699.4(GATAD2B):c.1661C>G (p.Ala554Gly) rs749141299 0.00001
NM_020699.4(GATAD2B):c.1753A>G (p.Ile585Val) rs372276373 0.00001
NM_020699.4(GATAD2B):c.50G>C (p.Ser17Thr) rs756129266 0.00001
NM_020699.4(GATAD2B):c.854T>C (p.Val285Ala) rs370689496 0.00001
GATAD2B, ASN195LYSfsTER30
NC_000001.10:g.(?_153753742)_(153791156_?)del
NM_020699.4(GATAD2B):c.1075C>T (p.Gln359Ter) rs1557781252
NM_020699.4(GATAD2B):c.1077_1089del (p.Gln359fs)
NM_020699.4(GATAD2B):c.1106C>T (p.Pro369Leu)
NM_020699.4(GATAD2B):c.1154A>G (p.Asn385Ser) rs1057519401
NM_020699.4(GATAD2B):c.117_127del (p.Met40fs)
NM_020699.4(GATAD2B):c.1190T>A (p.Val397Asp)
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs) rs1674480467
NM_020699.4(GATAD2B):c.1200dup (p.Val401fs)
NM_020699.4(GATAD2B):c.1217-633_1419+490del
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln) rs1057521041
NM_020699.4(GATAD2B):c.1258T>C (p.Cys420Arg) rs1674357007
NM_020699.4(GATAD2B):c.1280T>G (p.Phe427Cys) rs2101876401
NM_020699.4(GATAD2B):c.1379G>A (p.Arg460Gln) rs1036140299
NM_020699.4(GATAD2B):c.1390G>A (p.Ala464Thr)
NM_020699.4(GATAD2B):c.1405del (p.Leu469fs)
NM_020699.4(GATAD2B):c.1408C>T (p.Gln470Ter) rs587776931
NM_020699.4(GATAD2B):c.1411C>T (p.Gln471Ter)
NM_020699.4(GATAD2B):c.1419+1G>A rs1674353589
NM_020699.4(GATAD2B):c.1426G>T (p.Glu476Ter) rs1553187446
NM_020699.4(GATAD2B):c.1429C>T (p.Gln477Ter) rs1553187443
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter) rs761820222
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter) rs1674313030
NM_020699.4(GATAD2B):c.1441C>T (p.Gln481Ter)
NM_020699.4(GATAD2B):c.1446G>T (p.Gln482His) rs1674312870
NM_020699.4(GATAD2B):c.1537C>T (p.Gln513Ter) rs1553187362
NM_020699.4(GATAD2B):c.155del (p.Lys52fs)
NM_020699.4(GATAD2B):c.1621G>T (p.Val541Leu) rs1324892287
NM_020699.4(GATAD2B):c.1762T>G (p.Ser588Ala)
NM_020699.4(GATAD2B):c.1780T>C (p.Ter594Gln) rs1674245097
NM_020699.4(GATAD2B):c.185del (p.Glu62fs) rs1570938014
NM_020699.4(GATAD2B):c.193A>G (p.Thr65Ala) rs2101891444
NM_020699.4(GATAD2B):c.230A>G (p.Glu77Gly) rs1674946246
NM_020699.4(GATAD2B):c.251_257del (p.Arg84fs)
NM_020699.4(GATAD2B):c.288C>T (p.Gly96=)
NM_020699.4(GATAD2B):c.343G>T (p.Glu115Ter)
NM_020699.4(GATAD2B):c.346C>T (p.Arg116Ter) rs886041621
NM_020699.4(GATAD2B):c.349G>A (p.Gly117Arg)
NM_020699.4(GATAD2B):c.365C>G (p.Ser122Ter) rs1674609315
NM_020699.4(GATAD2B):c.377T>C (p.Ile126Thr)
NM_020699.4(GATAD2B):c.387del (p.Asp130fs) rs756062872
NM_020699.4(GATAD2B):c.392dup (p.Asn131fs)
NM_020699.4(GATAD2B):c.406_411del (p.Pro136_Arg137del) rs2101883113
NM_020699.4(GATAD2B):c.420del (p.Arg141fs)
NM_020699.4(GATAD2B):c.432_435del (p.Glu144fs) rs1057518629
NM_020699.4(GATAD2B):c.443C>A (p.Ala148Glu)
NM_020699.4(GATAD2B):c.466-1G>C
NM_020699.4(GATAD2B):c.520C>T (p.Arg174Ter) rs1674577139
NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter) rs1553188463
NM_020699.4(GATAD2B):c.539T>C (p.Leu180Pro) rs1674576482
NM_020699.4(GATAD2B):c.552_555del (p.Lys184fs) rs1131692165
NM_020699.4(GATAD2B):c.565_566del (p.Gln190fs) rs886037647
NM_020699.4(GATAD2B):c.574C>T (p.Gln192Ter) rs1570929904
NM_020699.4(GATAD2B):c.587T>C (p.Val196Ala)
NM_020699.4(GATAD2B):c.597+1G>A rs1570929867
NM_020699.4(GATAD2B):c.597+2_597+3dup rs1674574746
NM_020699.4(GATAD2B):c.598-1G>A rs1674549557
NM_020699.4(GATAD2B):c.614del (p.Asn205fs)
NM_020699.4(GATAD2B):c.625A>T (p.Ile209Phe)
NM_020699.4(GATAD2B):c.628G>T (p.Val210Phe) rs763237887
NM_020699.4(GATAD2B):c.646del (p.His216fs)
NM_020699.4(GATAD2B):c.653_654dup (p.Gln219fs)
NM_020699.4(GATAD2B):c.658C>T (p.Gln220Ter) rs1057520600
NM_020699.4(GATAD2B):c.667_670del (p.Lys224fs) rs1570929072
NM_020699.4(GATAD2B):c.676C>T (p.Pro226Ser)
NM_020699.4(GATAD2B):c.694C>T (p.Gln232Ter) rs1057518674
NM_020699.4(GATAD2B):c.709C>T (p.Gln237Ter) rs1553188314
NM_020699.4(GATAD2B):c.71G>A (p.Arg24Gln)
NM_020699.4(GATAD2B):c.729+10C>G rs753734177
NM_020699.4(GATAD2B):c.729G>A (p.Gln243=) rs2101881311
NM_020699.4(GATAD2B):c.751G>A (p.Ala251Thr) rs1352649088
NM_020699.4(GATAD2B):c.766C>T (p.Leu256Phe) rs906441475
NM_020699.4(GATAD2B):c.76_80dup (p.Leu28fs) rs1131692164
NM_020699.4(GATAD2B):c.777_778del (p.Met259fs) rs2101880773
NM_020699.4(GATAD2B):c.818dup (p.Gln274fs)
NM_020699.4(GATAD2B):c.852T>G (p.Leu284=)
NM_020699.4(GATAD2B):c.895C>T (p.Gln299Ter) rs1674512996
NM_020699.4(GATAD2B):c.899C>G (p.Pro300Arg)
NM_020699.4(GATAD2B):c.900+5G>C
NM_020699.4(GATAD2B):c.918del (p.Pro307fs) rs1064793829
NM_020699.4(GATAD2B):c.91C>T (p.Arg31Ter) rs1570938113
NM_020699.4(GATAD2B):c.947T>A (p.Ile316Asn) rs1674488908
NM_020699.4(GATAD2B):c.973C>T (p.Gln325Ter) rs1064794066
NM_020699.4(GATAD2B):c.980_981del (p.Gly327fs) rs797045594
NM_020699.4(GATAD2B):c.981del (p.Thr328fs) rs797045594

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