ClinVar Miner

List of variants in gene SLC52A3 studied for Brown-Vialetto-Van Laere syndrome 1

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Total variants: 150
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HGVS dbSNP
NC_000020.10:g.(?_741650)_(746438_?)dup
NC_000020.11:g.(?_761006)_(765794_?)del
NM_033409.3:c.1128-1129_insT
NM_033409.4(SLC52A3):c.-52+394T>C rs750886042
NM_033409.4(SLC52A3):c.1047G>A (p.Ser349=) rs147369439
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys) rs267606686
NM_033409.4(SLC52A3):c.1095C>T (p.Val365=) rs776667122
NM_033409.4(SLC52A3):c.1102G>A (p.Val368Met) rs148181353
NM_033409.4(SLC52A3):c.1105C>T (p.Leu369Phe)
NM_033409.4(SLC52A3):c.1130A>T (p.Asn377Ile)
NM_033409.4(SLC52A3):c.1149G>A (p.Met383Ile) rs763995965
NM_033409.4(SLC52A3):c.1154C>T (p.Pro385Leu) rs1568717900
NM_033409.4(SLC52A3):c.1160C>T (p.Pro387Leu) rs1164187566
NM_033409.4(SLC52A3):c.1172G>A (p.Gly391Asp)
NM_033409.4(SLC52A3):c.1177T>C (p.Trp393Arg)
NM_033409.4(SLC52A3):c.1192C>T (p.Leu398Phe)
NM_033409.4(SLC52A3):c.1195A>G (p.Ile399Val)
NM_033409.4(SLC52A3):c.1198-2A>C rs754753126
NM_033409.4(SLC52A3):c.1198-2A>G
NM_033409.4(SLC52A3):c.1198-6C>T rs778730226
NM_033409.4(SLC52A3):c.1200G>A (p.Val400=) rs772196630
NM_033409.4(SLC52A3):c.1201G>A (p.Ala401Thr) rs544612142
NM_033409.4(SLC52A3):c.1201G>T (p.Ala401Ser)
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala) rs267606687
NM_033409.4(SLC52A3):c.1255G>A (p.Val419Met) rs797045198
NM_033409.4(SLC52A3):c.125C>T (p.Ser42Phe)
NM_033409.4(SLC52A3):c.1270C>T (p.Leu424Phe) rs369230517
NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=) rs139137879
NM_033409.4(SLC52A3):c.1293G>A (p.Trp431Ter) rs1060499531
NM_033409.4(SLC52A3):c.1296C>A (p.Cys432Ter) rs758570021
NM_033409.4(SLC52A3):c.1311G>C (p.Gln437His) rs1555783468
NM_033409.4(SLC52A3):c.1316G>A (p.Gly439Asp) rs1555783467
NM_033409.4(SLC52A3):c.1325_1326del (p.Leu442fs) rs794728004
NM_033409.4(SLC52A3):c.1326C>A (p.Leu442=) rs754225887
NM_033409.4(SLC52A3):c.1327_1338del (p.Gly443_Leu446del) rs1462694166
NM_033409.4(SLC52A3):c.1327_1338dup (p.Gly443_Leu446dup)
NM_033409.4(SLC52A3):c.1334T>C (p.Leu445Pro) rs761224042
NM_033409.4(SLC52A3):c.134C>T (p.Thr45Met) rs776065357
NM_033409.4(SLC52A3):c.135G>A (p.Thr45=) rs373887707
NM_033409.4(SLC52A3):c.1363C>T (p.Arg455Trp) rs939576852
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu) rs145431028
NM_033409.4(SLC52A3):c.1373C>A (p.Ser458Ter) rs745750480
NM_033409.4(SLC52A3):c.1374G>T (p.Ser458=) rs758484328
NM_033409.4(SLC52A3):c.1381G>T (p.Asp461Tyr) rs140360713
NM_033409.4(SLC52A3):c.1403_1404insTGCCTTCTGCAATCTGCACTGTCC (p.Phe462_Ala469dup) rs1599955591
NM_033409.4(SLC52A3):c.140T>C (p.Val47Ala) rs1555784013
NM_033409.4(SLC52A3):c.160G>A (p.Gly54Arg) rs797045191
NM_033409.4(SLC52A3):c.173T>A (p.Val58Asp) rs797045192
NM_033409.4(SLC52A3):c.183C>T (p.Leu61=) rs1372014420
NM_033409.4(SLC52A3):c.194G>A (p.Arg65Gln) rs144337813
NM_033409.4(SLC52A3):c.203G>C (p.Cys68Ser) rs149622425
NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys) rs267606683
NM_033409.4(SLC52A3):c.211G>T (p.Glu71Ter) rs267606683
NM_033409.4(SLC52A3):c.215T>A (p.Val72Glu)
NM_033409.4(SLC52A3):c.224T>C (p.Ile75Thr) rs797045193
NM_033409.4(SLC52A3):c.240C>T (p.Gly80=) rs34376836
NM_033409.4(SLC52A3):c.241G>A (p.Val81Met) rs546240059
NM_033409.4(SLC52A3):c.250G>A (p.Val84Ile) rs142064992
NM_033409.4(SLC52A3):c.250G>C (p.Val84Leu) rs142064992
NM_033409.4(SLC52A3):c.25G>A (p.Val9Ile)
NM_033409.4(SLC52A3):c.272T>G (p.Phe91Cys) rs1481097414
NM_033409.4(SLC52A3):c.287C>A (p.Thr96Asn)
NM_033409.4(SLC52A3):c.303C>T (p.Asp101=) rs137861276
NM_033409.4(SLC52A3):c.304G>A (p.Gly102Ser)
NM_033409.4(SLC52A3):c.305G>A (p.Gly102Asp)
NM_033409.4(SLC52A3):c.30C>T (p.Cys10=) rs201545356
NM_033409.4(SLC52A3):c.311A>G (p.His104Arg)
NM_033409.4(SLC52A3):c.319G>A (p.Ala107Thr) rs370718326
NM_033409.4(SLC52A3):c.31G>A (p.Val11Ile) rs746808726
NM_033409.4(SLC52A3):c.327G>T (p.Leu109Phe) rs1599959281
NM_033409.4(SLC52A3):c.339C>T (p.Phe113=) rs151229044
NM_033409.4(SLC52A3):c.363C>G (p.Thr121=) rs749966154
NM_033409.4(SLC52A3):c.374C>A (p.Thr125Asn) rs767263985
NM_033409.4(SLC52A3):c.37G>A (p.Gly13Arg)
NM_033409.4(SLC52A3):c.394C>A (p.Arg132=)
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp) rs267606684
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln) rs142157418
NM_033409.4(SLC52A3):c.403A>G (p.Thr135Ala) rs527853872
NM_033409.4(SLC52A3):c.438A>G (p.Gly146=) rs149076913
NM_033409.4(SLC52A3):c.444C>T (p.Ser148=) rs551722690
NM_033409.4(SLC52A3):c.457G>A (p.Ala153Thr)
NM_033409.4(SLC52A3):c.485G>T (p.Gly162Val)
NM_033409.4(SLC52A3):c.48C>G (p.Ser16=)
NM_033409.4(SLC52A3):c.498C>T (p.Cys166=) rs377618514
NM_033409.4(SLC52A3):c.499G>A (p.Val167Ile) rs112034541
NM_033409.4(SLC52A3):c.49T>C (p.Trp17Arg) rs797045190
NM_033409.4(SLC52A3):c.514A>G (p.Ile172Val)
NM_033409.4(SLC52A3):c.515T>C (p.Ile172Thr) rs774371416
NM_033409.4(SLC52A3):c.517T>C (p.Ser173Pro) rs749602815
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly) rs6054614
NM_033409.4(SLC52A3):c.525C>A (p.Ser175Arg)
NM_033409.4(SLC52A3):c.525C>G (p.Ser175Arg) rs143641819
NM_033409.4(SLC52A3):c.525C>T (p.Ser175=) rs143641819
NM_033409.4(SLC52A3):c.526G>A (p.Val176Ile)
NM_033409.4(SLC52A3):c.546G>A (p.Thr182=) rs139965967
NM_033409.4(SLC52A3):c.54G>A (p.Val18=) rs1418731782
NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC rs3833341
NM_033409.4(SLC52A3):c.58A>C (p.Ile20Leu)
NM_033409.4(SLC52A3):c.5C>T (p.Ala2Val) rs1472734097
NM_033409.4(SLC52A3):c.600C>T (p.Pro200=) rs16992990
NM_033409.4(SLC52A3):c.601G>A (p.Gly201Arg) rs565998859
NM_033409.4(SLC52A3):c.615C>T (p.Pro205=) rs771572751
NM_033409.4(SLC52A3):c.618G>A (p.Leu206=) rs1418663109
NM_033409.4(SLC52A3):c.619T>A (p.Ser207Thr)
NM_033409.4(SLC52A3):c.628G>A (p.Glu210Lys) rs747663714
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390
NM_033409.4(SLC52A3):c.634C>T (p.Arg212Cys) rs778479139
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter) rs778363575
NM_033409.4(SLC52A3):c.63T>C (p.Asn21=) rs574008733
NM_033409.4(SLC52A3):c.646G>A (p.Ala216Thr) rs202130911
NM_033409.4(SLC52A3):c.659C>A (p.Pro220His) rs797045194
NM_033409.4(SLC52A3):c.670T>C (p.Phe224Leu) rs267606685
NM_033409.4(SLC52A3):c.671T>G (p.Phe224Cys) rs797045197
NM_033409.4(SLC52A3):c.705C>A (p.Leu235=) rs3746806
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=) rs3746806
NM_033409.4(SLC52A3):c.706G>A (p.Val236Met) rs927297761
NM_033409.4(SLC52A3):c.711G>A (p.Ala237=) rs183391382
NM_033409.4(SLC52A3):c.728G>A (p.Arg243His) rs748986274
NM_033409.4(SLC52A3):c.753del (p.Val252fs) rs1568721373
NM_033409.4(SLC52A3):c.754G>A (p.Val252Met) rs757318492
NM_033409.4(SLC52A3):c.787C>T (p.His263Tyr) rs150159842
NM_033409.4(SLC52A3):c.796C>T (p.Arg266Trp) rs370499474
NM_033409.4(SLC52A3):c.802C>A (p.Arg268=) rs145498634
NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp)
NM_033409.4(SLC52A3):c.803G>A (p.Arg268Gln) rs111912321
NM_033409.4(SLC52A3):c.829G>A (p.Gly277Ser)
NM_033409.4(SLC52A3):c.82C>A (p.Pro28Thr) rs267606688
NM_033409.4(SLC52A3):c.833C>G (p.Thr278Arg)
NM_033409.4(SLC52A3):c.865G>A (p.Glu289Lys)
NM_033409.4(SLC52A3):c.878C>A (p.Ala293Asp)
NM_033409.4(SLC52A3):c.890C>T (p.Pro297Leu) rs201990981
NM_033409.4(SLC52A3):c.893C>T (p.Ala298Val) rs543436922
NM_033409.4(SLC52A3):c.894G>A (p.Ala298=) rs532778217
NM_033409.4(SLC52A3):c.895C>T (p.His299Tyr)
NM_033409.4(SLC52A3):c.914C>A (p.Thr305Asn) rs201254395
NM_033409.4(SLC52A3):c.933C>T (p.Asn311=) rs534678154
NM_033409.4(SLC52A3):c.935C>T (p.Ala312Val) rs752218005
NM_033409.4(SLC52A3):c.936G>A (p.Ala312=) rs6054602
NM_033409.4(SLC52A3):c.945C>T (p.Asn315=) rs139430185
NM_033409.4(SLC52A3):c.946G>A (p.Gly316Ser)
NM_033409.4(SLC52A3):c.950T>C (p.Met317Thr) rs1251411780
NM_033409.4(SLC52A3):c.955C>T (p.Pro319Ser) rs797045195
NM_033409.4(SLC52A3):c.97G>C (p.Glu33Gln) rs199861879
NM_033409.4(SLC52A3):c.981G>C (p.Leu327=) rs62641669
NM_033409.4(SLC52A3):c.987T>C (p.Tyr329=) rs376546378
NM_033409.4(SLC52A3):c.989G>T (p.Gly330Val) rs797045196
NM_033409.4(SLC52A3):c.994G>A (p.Val332Ile) rs890765839
NM_033409.4(SLC52A3):c.9C>T (p.Phe3=) rs139486822
Single allele rs544939272

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