ClinVar Miner

List of variants in gene SLC52A3 reported as uncertain significance for Brown-Vialetto-van Laere syndrome 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NC_000020.11:g.759188G>A rs544939272 0.00113
NM_033409.4(SLC52A3):c.865G>A (p.Glu289Lys) rs142265627 0.00052
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu) rs145431028 0.00046
NM_033409.4(SLC52A3):c.1381G>T (p.Asp461Tyr) rs140360713 0.00028
NM_033409.4(SLC52A3):c.646G>A (p.Ala216Thr) rs202130911 0.00024
NM_033409.4(SLC52A3):c.787C>T (p.His263Tyr) rs150159842 0.00024
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln) rs142157418 0.00022
NM_033409.4(SLC52A3):c.203G>C (p.Cys68Ser) rs149622425 0.00015
NM_033409.4(SLC52A3):c.1172G>A (p.Gly391Asp) rs370820845 0.00013
NM_033409.4(SLC52A3):c.1149G>A (p.Met383Ile) rs763995965 0.00010
NM_033409.4(SLC52A3):c.58A>C (p.Ile20Leu) rs148387972 0.00010
NM_033409.4(SLC52A3):c.403A>G (p.Thr135Ala) rs527853872 0.00009
NM_033409.4(SLC52A3):c.1301C>T (p.Ala434Val) rs752924421 0.00008
NM_033409.4(SLC52A3):c.194G>A (p.Arg65Gln) rs144337813 0.00007
NM_033409.4(SLC52A3):c.1270C>T (p.Leu424Phe) rs369230517 0.00006
NM_033409.4(SLC52A3):c.601G>A (p.Gly201Arg) rs565998859 0.00006
NM_033409.4(SLC52A3):c.803G>A (p.Arg268Gln) rs111912321 0.00006
NM_033409.4(SLC52A3):c.890C>T (p.Pro297Leu) rs201990981 0.00006
NM_033409.4(SLC52A3):c.499G>A (p.Val167Ile) rs112034541 0.00005
NM_033409.4(SLC52A3):c.728G>A (p.Arg243His) rs748986274 0.00005
NM_033409.4(SLC52A3):c.-52+394T>C rs750886042 0.00004
NM_033409.4(SLC52A3):c.1102G>A (p.Val368Met) rs148181353 0.00004
NM_033409.4(SLC52A3):c.134C>T (p.Thr45Met) rs776065357 0.00004
NM_033409.4(SLC52A3):c.25G>A (p.Val9Ile) rs770505431 0.00004
NM_033409.4(SLC52A3):c.374C>A (p.Thr125Asn) rs767263985 0.00004
NM_033409.4(SLC52A3):c.628G>A (p.Glu210Lys) rs747663714 0.00004
NM_033409.4(SLC52A3):c.928G>A (p.Val310Ile) rs145194879 0.00004
NM_033409.4(SLC52A3):c.946G>A (p.Gly316Ser) rs372400886 0.00004
NM_033409.4(SLC52A3):c.994G>A (p.Val332Ile) rs890765839 0.00004
NM_033409.4(SLC52A3):c.1177T>C (p.Trp393Arg) rs762145813 0.00003
NM_033409.4(SLC52A3):c.1276C>T (p.Arg426Cys) rs780025944 0.00003
NM_033409.4(SLC52A3):c.1363C>T (p.Arg455Trp) rs939576852 0.00003
NM_033409.4(SLC52A3):c.215T>A (p.Val72Glu) rs751825591 0.00003
NM_033409.4(SLC52A3):c.272T>G (p.Phe91Cys) rs1481097414 0.00003
NM_033409.4(SLC52A3):c.457G>A (p.Ala153Thr) rs767174206 0.00003
NM_033409.4(SLC52A3):c.517T>C (p.Ser173Pro) rs749602815 0.00003
NM_033409.4(SLC52A3):c.706G>A (p.Val236Met) rs927297761 0.00003
NM_033409.4(SLC52A3):c.796C>T (p.Arg266Trp) rs370499474 0.00003
NM_033409.4(SLC52A3):c.1192C>T (p.Leu398Phe) rs774461829 0.00002
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala) rs267606687 0.00002
NM_033409.4(SLC52A3):c.1333C>G (p.Leu445Val) rs1431510759 0.00002
NM_033409.4(SLC52A3):c.193C>T (p.Arg65Trp) rs537244674 0.00002
NM_033409.4(SLC52A3):c.250G>A (p.Val84Ile) rs142064992 0.00002
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp) rs267606684 0.00002
NM_033409.4(SLC52A3):c.478G>A (p.Gly160Ser) rs199778195 0.00002
NM_033409.4(SLC52A3):c.514A>G (p.Ile172Val) rs201479216 0.00002
NM_033409.4(SLC52A3):c.567+6C>T rs1429255300 0.00002
NM_033409.4(SLC52A3):c.592G>A (p.Ala198Thr) rs759918880 0.00002
NM_033409.4(SLC52A3):c.5C>T (p.Ala2Val) rs1472734097 0.00002
NM_033409.4(SLC52A3):c.70T>C (p.Trp24Arg) rs1288873761 0.00002
NM_033409.4(SLC52A3):c.797G>A (p.Arg266Gln) rs768105926 0.00002
NM_033409.4(SLC52A3):c.959C>G (p.Ser320Cys) rs535368648 0.00002
NM_033409.4(SLC52A3):c.1009G>A (p.Ala337Thr) rs139542858 0.00001
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys) rs267606686 0.00001
NM_033409.4(SLC52A3):c.1096C>A (p.Leu366Ile) rs772652109 0.00001
NM_033409.4(SLC52A3):c.1198-2A>G rs754753126 0.00001
NM_033409.4(SLC52A3):c.1201G>A (p.Ala401Thr) rs544612142 0.00001
NM_033409.4(SLC52A3):c.1265G>A (p.Arg422His) rs200665228 0.00001
NM_033409.4(SLC52A3):c.130C>T (p.Leu44Phe) rs759031372 0.00001
NM_033409.4(SLC52A3):c.1326C>A (p.Leu442=) rs754225887 0.00001
NM_033409.4(SLC52A3):c.1373C>A (p.Ser458Ter) rs745750480 0.00001
NM_033409.4(SLC52A3):c.160G>A (p.Gly54Arg) rs797045191 0.00001
NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys) rs267606683 0.00001
NM_033409.4(SLC52A3):c.238G>A (p.Gly80Ser) rs534971384 0.00001
NM_033409.4(SLC52A3):c.269C>T (p.Ala90Val) rs765857311 0.00001
NM_033409.4(SLC52A3):c.304G>A (p.Gly102Ser) rs770944402 0.00001
NM_033409.4(SLC52A3):c.305G>A (p.Gly102Asp) rs888740621 0.00001
NM_033409.4(SLC52A3):c.311A>G (p.His104Arg) rs201152444 0.00001
NM_033409.4(SLC52A3):c.319G>A (p.Ala107Thr) rs370718326 0.00001
NM_033409.4(SLC52A3):c.383C>T (p.Pro128Leu) rs890766612 0.00001
NM_033409.4(SLC52A3):c.484G>A (p.Gly162Ser) rs896950205 0.00001
NM_033409.4(SLC52A3):c.526G>A (p.Val176Ile) rs781769616 0.00001
NM_033409.4(SLC52A3):c.545C>T (p.Thr182Met) rs201100567 0.00001
NM_033409.4(SLC52A3):c.562G>A (p.Ala188Thr) rs752459961 0.00001
NM_033409.4(SLC52A3):c.599C>T (p.Pro200Leu) rs1392216140 0.00001
NM_033409.4(SLC52A3):c.727C>A (p.Arg243Ser) rs1287029928 0.00001
NM_033409.4(SLC52A3):c.814G>C (p.Asp272His) rs377559449 0.00001
NM_033409.4(SLC52A3):c.893C>T (p.Ala298Val) rs543436922 0.00001
NM_033409.4(SLC52A3):c.935C>T (p.Ala312Val) rs752218005 0.00001
NM_033409.4(SLC52A3):c.950T>C (p.Met317Thr) rs1251411780 0.00001
NM_033409.4(SLC52A3):c.951G>A (p.Met317Ile) rs1027231153 0.00001
NM_033409.4(SLC52A3):c.974C>T (p.Ser325Phe) rs748083229 0.00001
NC_000020.10:g.(?_741650)_(746438_?)dup
NC_000020.10:g.(?_741670)_(742488_?)dup
NC_000020.10:g.(?_741670)_(746418_?)dup
NM_033409.4(SLC52A3):c.1000T>C (p.Tyr334His) rs1986560425
NM_033409.4(SLC52A3):c.1009G>C (p.Ala337Pro)
NM_033409.4(SLC52A3):c.1027G>A (p.Val343Met) rs758815341
NM_033409.4(SLC52A3):c.1027G>T (p.Val343Leu)
NM_033409.4(SLC52A3):c.1037C>G (p.Pro346Arg) rs2122516090
NM_033409.4(SLC52A3):c.1062C>G (p.Phe354Leu) rs2122515947
NM_033409.4(SLC52A3):c.1081C>A (p.Leu361Met)
NM_033409.4(SLC52A3):c.1084T>C (p.Phe362Leu) rs1568718167
NM_033409.4(SLC52A3):c.1086C>G (p.Phe362Leu) rs751425036
NM_033409.4(SLC52A3):c.1093G>C (p.Val365Leu) rs763929903
NM_033409.4(SLC52A3):c.1093G>T (p.Val365Phe) rs763929903
NM_033409.4(SLC52A3):c.1105C>T (p.Leu369Phe) rs748457215
NM_033409.4(SLC52A3):c.1121G>A (p.Gly374Glu)
NM_033409.4(SLC52A3):c.1123G>T (p.Gly375Cys)
NM_033409.4(SLC52A3):c.1124G>T (p.Gly375Val)
NM_033409.4(SLC52A3):c.1130A>T (p.Asn377Ile) rs1986495207
NM_033409.4(SLC52A3):c.1139T>C (p.Met380Thr) rs2122509404
NM_033409.4(SLC52A3):c.1154C>T (p.Pro385Leu) rs1568717900
NM_033409.4(SLC52A3):c.1156T>C (p.Cys386Arg) rs1555783543
NM_033409.4(SLC52A3):c.1160C>T (p.Pro387Leu) rs1164187566
NM_033409.4(SLC52A3):c.1162C>G (p.Leu388Val)
NM_033409.4(SLC52A3):c.1189G>A (p.Val397Ile) rs2122509059
NM_033409.4(SLC52A3):c.1195A>G (p.Ile399Val) rs1986490652
NM_033409.4(SLC52A3):c.1201G>T (p.Ala401Ser) rs544612142
NM_033409.4(SLC52A3):c.1204T>A (p.Ser402Thr) rs1195024412
NM_033409.4(SLC52A3):c.1210G>T (p.Val404Leu)
NM_033409.4(SLC52A3):c.1218C>A (p.Phe406Leu)
NM_033409.4(SLC52A3):c.1226G>A (p.Cys409Tyr) rs765645474
NM_033409.4(SLC52A3):c.1233T>G (p.Ser411Arg) rs910857
NM_033409.4(SLC52A3):c.1233delinsCCTACGCTTCCCTCCCGGCCCCGCAGGTGGCCTCGTGGGTGCTTTTCAGCGGCTGCCTCAG (p.Ser411_Tyr412insLeuArgPheProProGlyProAlaGlyGlyLeuValGlyAlaPheGlnArgLeuProGln)
NM_033409.4(SLC52A3):c.1241A>G (p.Lys414Arg)
NM_033409.4(SLC52A3):c.1248G>A (p.Met416Ile) rs771690412
NM_033409.4(SLC52A3):c.125C>T (p.Ser42Phe) rs1986660402
NM_033409.4(SLC52A3):c.1273A>C (p.Ser425Arg)
NM_033409.4(SLC52A3):c.1300del (p.Ala434fs)
NM_033409.4(SLC52A3):c.1306G>A (p.Val436Met) rs2122505768
NM_033409.4(SLC52A3):c.130C>A (p.Leu44Ile) rs759031372
NM_033409.4(SLC52A3):c.1311G>C (p.Gln437His) rs1555783468
NM_033409.4(SLC52A3):c.1327_1338del (p.Gly443_Leu446del) rs1462694166
NM_033409.4(SLC52A3):c.1327_1338dup (p.Gly443_Leu446dup) rs1462694166
NM_033409.4(SLC52A3):c.1334T>C (p.Leu445Pro) rs761224042
NM_033409.4(SLC52A3):c.1336C>T (p.Leu446Phe) rs1986450964
NM_033409.4(SLC52A3):c.1340T>C (p.Met447Thr) rs2122505474
NM_033409.4(SLC52A3):c.1346C>G (p.Pro449Arg)
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.151G>A (p.Ala51Thr) rs2122526452
NM_033409.4(SLC52A3):c.197C>G (p.Pro66Arg)
NM_033409.4(SLC52A3):c.23T>C (p.Leu8Pro)
NM_033409.4(SLC52A3):c.250G>C (p.Val84Leu) rs142064992
NM_033409.4(SLC52A3):c.281A>G (p.Asn94Ser)
NM_033409.4(SLC52A3):c.287C>A (p.Thr96Asn) rs1986650729
NM_033409.4(SLC52A3):c.303C>A (p.Asp101Glu) rs137861276
NM_033409.4(SLC52A3):c.314G>A (p.Ser105Asn) rs1375952258
NM_033409.4(SLC52A3):c.31G>A (p.Val11Ile) rs746808726
NM_033409.4(SLC52A3):c.320C>G (p.Ala107Gly) rs1356046308
NM_033409.4(SLC52A3):c.320C>T (p.Ala107Val)
NM_033409.4(SLC52A3):c.327G>T (p.Leu109Phe) rs1599959281
NM_033409.4(SLC52A3):c.352G>A (p.Val118Met) rs1481863428
NM_033409.4(SLC52A3):c.353T>A (p.Val118Glu)
NM_033409.4(SLC52A3):c.37G>A (p.Gly13Arg) rs146302587
NM_033409.4(SLC52A3):c.394C>A (p.Arg132=) rs267606684
NM_033409.4(SLC52A3):c.3G>A (p.Met1Ile) rs2122527408
NM_033409.4(SLC52A3):c.436G>A (p.Gly146Arg)
NM_033409.4(SLC52A3):c.463G>T (p.Val155Leu) rs1236849359
NM_033409.4(SLC52A3):c.485G>T (p.Gly162Val) rs1986638928
NM_033409.4(SLC52A3):c.491C>A (p.Thr164Asn) rs2122524593
NM_033409.4(SLC52A3):c.503A>G (p.Asn168Ser)
NM_033409.4(SLC52A3):c.515T>C (p.Ile172Thr) rs774371416
NM_033409.4(SLC52A3):c.525C>A (p.Ser175Arg) rs143641819
NM_033409.4(SLC52A3):c.525C>G (p.Ser175Arg) rs143641819
NM_033409.4(SLC52A3):c.542C>A (p.Pro181His)
NM_033409.4(SLC52A3):c.554C>A (p.Thr185Asn) rs1256931487
NM_033409.4(SLC52A3):c.56C>T (p.Thr19Ile)
NM_033409.4(SLC52A3):c.619T>A (p.Ser207Thr) rs1986585692
NM_033409.4(SLC52A3):c.658C>T (p.Pro220Ser)
NM_033409.4(SLC52A3):c.661C>A (p.Leu221Met) rs1599958133
NM_033409.4(SLC52A3):c.667TTC[1] (p.Phe224del) rs1384973195
NM_033409.4(SLC52A3):c.671T>G (p.Phe224Cys) rs797045197
NM_033409.4(SLC52A3):c.676C>T (p.Leu226Phe)
NM_033409.4(SLC52A3):c.685A>C (p.Ile229Leu)
NM_033409.4(SLC52A3):c.694G>T (p.Ala232Ser)
NM_033409.4(SLC52A3):c.718G>A (p.Val240Ile)
NM_033409.4(SLC52A3):c.745G>A (p.Glu249Lys)
NM_033409.4(SLC52A3):c.746A>G (p.Glu249Gly) rs2122518116
NM_033409.4(SLC52A3):c.754G>A (p.Val252Met) rs757318492
NM_033409.4(SLC52A3):c.761A>T (p.Asp254Val)
NM_033409.4(SLC52A3):c.763C>T (p.Leu255Phe) rs1986576660
NM_033409.4(SLC52A3):c.802C>T (p.Arg268Trp) rs145498634
NM_033409.4(SLC52A3):c.814G>A (p.Asp272Asn) rs377559449
NM_033409.4(SLC52A3):c.827C>T (p.Ala276Val) rs1986571785
NM_033409.4(SLC52A3):c.829G>A (p.Gly277Ser) rs1310858614
NM_033409.4(SLC52A3):c.833C>G (p.Thr278Arg) rs3746803
NM_033409.4(SLC52A3):c.840C>A (p.Asp280Glu)
NM_033409.4(SLC52A3):c.857G>A (p.Gly286Glu) rs762187343
NM_033409.4(SLC52A3):c.878C>A (p.Ala293Asp) rs774918391
NM_033409.4(SLC52A3):c.895C>T (p.His299Tyr) rs1986566985
NM_033409.4(SLC52A3):c.901G>A (p.Ala301Thr) rs1986566773
NM_033409.4(SLC52A3):c.908T>C (p.Ile303Thr)
NM_033409.4(SLC52A3):c.914C>A (p.Thr305Asn) rs201254395
NM_033409.4(SLC52A3):c.934G>A (p.Ala312Thr)
NM_033409.4(SLC52A3):c.94A>G (p.Met32Val) rs751913684
NM_033409.4(SLC52A3):c.94A>T (p.Met32Leu) rs751913684
NM_033409.4(SLC52A3):c.95T>C (p.Met32Thr) rs1986661705
NM_033409.4(SLC52A3):c.965A>G (p.Gln322Arg) rs1986562969
NM_033409.4(SLC52A3):c.995T>C (p.Val332Ala)

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