ClinVar Miner

List of variants in gene GATAD2B reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_020699.4(GATAD2B):c.-1-274G>A rs6690242 0.70745
NM_020699.4(GATAD2B):c.1217-254C>T rs6668066 0.41553
NM_020699.4(GATAD2B):c.1648+178C>G rs12136094 0.17950
NM_020699.4(GATAD2B):c.336-86C>T rs75524443 0.09051
NM_020699.4(GATAD2B):c.597+99_597+101del rs147317448 0.06798
NM_020699.4(GATAD2B):c.1420-253C>G rs73013795 0.04022
NM_020699.4(GATAD2B):c.901-86G>T rs78740769 0.03260
NM_020699.4(GATAD2B):c.1649-291G>A rs114840453 0.01835
NM_020699.4(GATAD2B):c.1648+113G>A rs112979659 0.01325
NM_020699.4(GATAD2B):c.465+33T>G rs113536045 0.01325
NM_020699.4(GATAD2B):c.900+266A>G rs115128786 0.01259
NM_020699.4(GATAD2B):c.730-36C>T rs115795066 0.01247
NM_020699.4(GATAD2B):c.1038C>T (p.Ala346=) rs114813239 0.00905
NM_020699.4(GATAD2B):c.597+186G>A rs114497933 0.00585
NM_020699.4(GATAD2B):c.676C>G (p.Pro226Ala) rs115193744 0.00573
NM_020699.4(GATAD2B):c.1469C>T (p.Ala490Val) rs145131801 0.00433
NM_020699.4(GATAD2B):c.597+108C>T rs185371650 0.00372
NM_020699.4(GATAD2B):c.335+30T>C rs138532021 0.00214
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.335+31A>G rs41306223 0.00048
NM_020699.4(GATAD2B):c.415A>G (p.Ser139Gly) rs150914014 0.00045
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.1649-52A>G rs375027033 0.00022
NM_020699.4(GATAD2B):c.1455C>T (p.Leu485=) rs767666551 0.00014
NM_020699.4(GATAD2B):c.544C>T (p.Leu182=) rs368676576 0.00013
NM_020699.4(GATAD2B):c.901-35A>G rs376110222 0.00010
NM_020699.4(GATAD2B):c.1530+14T>C rs574345181 0.00003
NM_020699.4(GATAD2B):c.1661C>G (p.Ala554Gly) rs749141299 0.00002
NM_020699.4(GATAD2B):c.28C>T (p.Arg10Cys) rs750326578 0.00002
NM_020699.4(GATAD2B):c.900+26G>A rs768435976 0.00002
NM_020699.4(GATAD2B):c.1467G>A (p.Thr489=) rs763266883 0.00001
NM_020699.4(GATAD2B):c.1711C>T (p.Arg571Ter) rs372258374 0.00001
NM_020699.4(GATAD2B):c.730G>A (p.Gly244Ser) rs1373605897 0.00001
NM_020699.4(GATAD2B):c.-1-143GT[14] rs71093290
NM_020699.4(GATAD2B):c.-1-143GT[15] rs71093290
NM_020699.4(GATAD2B):c.-1-143GT[17] rs71093290
NM_020699.4(GATAD2B):c.-1-143GT[19] rs71093290
NM_020699.4(GATAD2B):c.-1-143GT[20] rs71093290
NM_020699.4(GATAD2B):c.1007T>G (p.Leu336Arg) rs2101879872
NM_020699.4(GATAD2B):c.1045C>T (p.Gln349Ter) rs1057524308
NM_020699.4(GATAD2B):c.1046A>G (p.Gln349Arg)
NM_020699.4(GATAD2B):c.1171A>G (p.Met391Val)
NM_020699.4(GATAD2B):c.1196del (p.Gln399fs) rs1553188054
NM_020699.4(GATAD2B):c.1216+172GT[18] rs71093286
NM_020699.4(GATAD2B):c.1216+172GT[19] rs71093286
NM_020699.4(GATAD2B):c.1216+172GT[20] rs71093286
NM_020699.4(GATAD2B):c.1216+172GT[25] rs71093286
NM_020699.4(GATAD2B):c.1216+172GT[26] rs71093286
NM_020699.4(GATAD2B):c.1216+172GT[27] rs71093286
NM_020699.4(GATAD2B):c.1217-2A>G rs1553187606
NM_020699.4(GATAD2B):c.1217-5T>C rs2525238677
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln) rs1057521041
NM_020699.4(GATAD2B):c.1288C>T (p.His430Tyr) rs2101876387
NM_020699.4(GATAD2B):c.1316T>G (p.Ile439Ser) rs1446103444
NM_020699.4(GATAD2B):c.1321T>C (p.Cys441Arg) rs2101876357
NM_020699.4(GATAD2B):c.1331del (p.Cys444fs) rs1057518163
NM_020699.4(GATAD2B):c.1378C>T (p.Arg460Trp) rs765210326
NM_020699.4(GATAD2B):c.1408C>T (p.Gln470Ter) rs587776931
NM_020699.4(GATAD2B):c.1414del (p.Glu472fs) rs1064796622
NM_020699.4(GATAD2B):c.1420-59del rs11264420
NM_020699.4(GATAD2B):c.1420-76dup rs11264420
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.1536_1541del (p.512PQ[1])
NM_020699.4(GATAD2B):c.153del (p.Lys52fs) rs1553189704
NM_020699.4(GATAD2B):c.182_183del (p.His61fs) rs2101891457
NM_020699.4(GATAD2B):c.186_194delinsTGGTG (p.Glu62fs) rs1553189700
NM_020699.4(GATAD2B):c.252del (p.Arg84fs) rs1570937961
NM_020699.4(GATAD2B):c.259G>A (p.Gly87Arg)
NM_020699.4(GATAD2B):c.335+1G>A rs1553189681
NM_020699.4(GATAD2B):c.335+1G>T rs1553189681
NM_020699.4(GATAD2B):c.335+2T>G rs1553189680
NM_020699.4(GATAD2B):c.346C>T (p.Arg116Ter) rs886041621
NM_020699.4(GATAD2B):c.406_411del (p.Pro136_Arg137del) rs2101883113
NM_020699.4(GATAD2B):c.432_435del (p.Glu144fs) rs1057518629
NM_020699.4(GATAD2B):c.495dup (p.Ile166fs) rs1064793756
NM_020699.4(GATAD2B):c.520C>T (p.Arg174Ter) rs1674577139
NM_020699.4(GATAD2B):c.532G>C (p.Ala178Pro) rs2101882325
NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter) rs1553188463
NM_020699.4(GATAD2B):c.562_563del (p.Gln188fs) rs1570929919
NM_020699.4(GATAD2B):c.565_566del (p.Gln190fs) rs886037647
NM_020699.4(GATAD2B):c.597G>A (p.Lys199=)
NM_020699.4(GATAD2B):c.598-144del rs35175263
NM_020699.4(GATAD2B):c.598-145_598-144del rs35175263
NM_020699.4(GATAD2B):c.625A>T (p.Ile209Phe) rs563781893
NM_020699.4(GATAD2B):c.633G>C (p.Gln211His) rs2101881437
NM_020699.4(GATAD2B):c.653G>A (p.Gly218Glu) rs2101881412
NM_020699.4(GATAD2B):c.655C>T (p.Gln219Ter) rs1553188335
NM_020699.4(GATAD2B):c.658C>T (p.Gln220Ter) rs1057520600
NM_020699.4(GATAD2B):c.673C>T (p.Leu225Phe) rs2525256503
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.729+10C>G rs753734177
NM_020699.4(GATAD2B):c.729G>A (p.Gln243=) rs2101881311
NM_020699.4(GATAD2B):c.820C>T (p.Gln274Ter) rs2101880713
NM_020699.4(GATAD2B):c.868C>G (p.Pro290Ala) rs2525252337
NM_020699.4(GATAD2B):c.918del (p.Pro307fs) rs1064793829
NM_020699.4(GATAD2B):c.948C>G (p.Ile316Met) rs2525248421
NM_020699.4(GATAD2B):c.968A>G (p.His323Arg) rs2101879943
NM_020699.4(GATAD2B):c.973C>T (p.Gln325Ter) rs1064794066

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