ClinVar Miner

List of variants studied for Brown-Vialetto-van Laere syndrome 1 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 358
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033409.4(SLC52A3):c.1233T>C (p.Ser411=) rs910857 0.68551
NM_033409.4(SLC52A3):c.765C>T (p.Leu255=) rs3746805 0.37656
NM_033409.4(SLC52A3):c.321C>T (p.Ala107=) rs3746808 0.26517
NM_033409.4(SLC52A3):c.800C>T (p.Pro267Leu) rs3746804 0.18642
NM_033409.4(SLC52A3):c.456C>T (p.Pro152=) rs3746807 0.10172
NM_033409.4(SLC52A3):c.907A>G (p.Ile303Val) rs3746802 0.09243
NM_033409.4(SLC52A3):c.222C>G (p.Ile74Met) rs35655964 0.06422
NM_033409.4(SLC52A3):c.645C>T (p.Pro215=) rs6054605 0.06184
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760 0.01629
NM_033409.4(SLC52A3):c.240C>T (p.Gly80=) rs34376836 0.01265
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly) rs6054614 0.01033
NM_033409.4(SLC52A3):c.600C>T (p.Pro200=) rs16992990 0.00815
NM_033409.4(SLC52A3):c.9C>T (p.Phe3=) rs139486822 0.00809
NM_033409.4(SLC52A3):c.1047G>A (p.Ser349=) rs147369439 0.00220
NM_033409.4(SLC52A3):c.981G>C (p.Leu327=) rs62641669 0.00081
NM_033409.4(SLC52A3):c.936G>A (p.Ala312=) rs6054602 0.00077
NM_033409.4(SLC52A3):c.339C>T (p.Phe113=) rs151229044 0.00072
NM_033409.4(SLC52A3):c.546G>A (p.Thr182=) rs139965967 0.00068
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.801G>A (p.Pro267=) rs146474751 0.00026
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.945C>T (p.Asn315=) rs139430185 0.00023
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln) rs142157418 0.00022
NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=) rs139137879 0.00017
NM_033409.4(SLC52A3):c.1288T>C (p.Leu430=) rs149534355 0.00015
NM_033409.4(SLC52A3):c.203G>C (p.Cys68Ser) rs149622425 0.00015
NM_033409.4(SLC52A3):c.711G>A (p.Ala237=) rs183391382 0.00015
NM_033409.4(SLC52A3):c.597C>T (p.Leu199=) rs142019192 0.00014
NM_033409.4(SLC52A3):c.1172G>A (p.Gly391Asp) rs370820845 0.00013
NM_033409.4(SLC52A3):c.438A>G (p.Gly146=) rs149076913 0.00013
NM_033409.4(SLC52A3):c.135G>A (p.Thr45=) rs373887707 0.00012
NM_033409.4(SLC52A3):c.567+16C>T rs376004466 0.00011
NM_033409.4(SLC52A3):c.97G>C (p.Glu33Gln) rs199861879 0.00011
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.567+15C>A rs369950335 0.00009
NM_033409.4(SLC52A3):c.1197+18G>A rs780649121 0.00008
NM_033409.4(SLC52A3):c.1301C>T (p.Ala434Val) rs752924421 0.00008
NM_033409.4(SLC52A3):c.363C>G (p.Thr121=) rs749966154 0.00008
NM_033409.4(SLC52A3):c.1198-6C>T rs778730226 0.00007
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.62A>G (p.Asn21Ser) rs199588390 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.979C>T (p.Leu327=) rs774366292 0.00005
NM_033409.4(SLC52A3):c.1102G>A (p.Val368Met) rs148181353 0.00004
NM_033409.4(SLC52A3):c.1197+14C>G rs566920080 0.00004
NM_033409.4(SLC52A3):c.134C>T (p.Thr45Met) rs776065357 0.00004
NM_033409.4(SLC52A3):c.249C>T (p.Thr83=) rs200606057 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.414C>A (p.Leu138=) rs749661470 0.00004
NM_033409.4(SLC52A3):c.444C>T (p.Ser148=) rs551722690 0.00004
NM_033409.4(SLC52A3):c.628G>A (p.Glu210Lys) rs747663714 0.00004
NM_033409.4(SLC52A3):c.753C>T (p.Ser251=) rs192438170 0.00004
NM_033409.4(SLC52A3):c.928G>A (p.Val310Ile) rs145194879 0.00004
NM_033409.4(SLC52A3):c.933C>T (p.Asn311=) rs534678154 0.00004
NM_033409.4(SLC52A3):c.946G>A (p.Gly316Ser) rs372400886 0.00004
NM_033409.4(SLC52A3):c.987T>C (p.Tyr329=) rs376546378 0.00004
NM_033409.4(SLC52A3):c.994G>A (p.Val332Ile) rs890765839 0.00004
NM_033409.4(SLC52A3):c.1014C>T (p.Ala338=) rs767240021 0.00003
NM_033409.4(SLC52A3):c.1177T>C (p.Trp393Arg) rs762145813 0.00003
NM_033409.4(SLC52A3):c.1200G>A (p.Val400=) rs772196630 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.1095C>T (p.Val365=) rs776667122 0.00002
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.303C>T (p.Asp101=) rs137861276 0.00002
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp) rs267606684 0.00002
NM_033409.4(SLC52A3):c.441C>A (p.Leu147=) rs779220699 0.00002
NM_033409.4(SLC52A3):c.478G>A (p.Gly160Ser) rs199778195 0.00002
NM_033409.4(SLC52A3):c.498C>T (p.Cys166=) rs377618514 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.615C>T (p.Pro205=) rs771572751 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.894G>A (p.Ala298=) rs532778217 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.1053C>T (p.Val351=) rs766126275 0.00001
NM_033409.4(SLC52A3):c.105C>T (p.Pro35=) rs376995195 0.00001
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys) rs267606686 0.00001
NM_033409.4(SLC52A3):c.1073+10C>T rs767166849 0.00001
NM_033409.4(SLC52A3):c.1073+16G>A rs372189215 0.00001
NM_033409.4(SLC52A3):c.1096C>A (p.Leu366Ile) rs772652109 0.00001
NM_033409.4(SLC52A3):c.1122G>A (p.Gly374=) rs755616826 0.00001
NM_033409.4(SLC52A3):c.1143G>A (p.Ala381=) rs756997756 0.00001
NM_033409.4(SLC52A3):c.1197+10C>T rs897478857 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.1215T>C (p.Leu405=) rs764407302 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.1320G>A (p.Ser440=) rs138169890 0.00001
NM_033409.4(SLC52A3):c.1326C>A (p.Leu442=) rs754225887 0.00001
NM_033409.4(SLC52A3):c.1359G>A (p.Val453=) rs536993223 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.195G>A (p.Arg65=) rs745945947 0.00001
NM_033409.4(SLC52A3):c.210C>T (p.Ser70=) rs1455468261 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.241G>A (p.Val81Met) rs546240059 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.30C>T (p.Cys10=) rs201545356 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.384G>A (p.Pro128=) rs774162429 0.00001
NM_033409.4(SLC52A3):c.432T>C (p.Gly144=) rs1195321579 0.00001
NM_033409.4(SLC52A3):c.483C>T (p.Ser161=) rs113754514 0.00001
NM_033409.4(SLC52A3):c.484G>A (p.Gly162Ser) rs896950205 0.00001
NM_033409.4(SLC52A3):c.48C>G (p.Ser16=) rs142206705 0.00001
NM_033409.4(SLC52A3):c.510T>C (p.Thr170=) rs772092979 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.54G>A (p.Val18=) rs1418731782 0.00001
NM_033409.4(SLC52A3):c.550G>T (p.Glu184Ter) rs890871342 0.00001
NM_033409.4(SLC52A3):c.562G>A (p.Ala188Thr) rs752459961 0.00001
NM_033409.4(SLC52A3):c.568-17T>C rs1986590057 0.00001
NM_033409.4(SLC52A3):c.599C>T (p.Pro200Leu) rs1392216140 0.00001
NM_033409.4(SLC52A3):c.618G>A (p.Leu206=) rs1418663109 0.00001
NM_033409.4(SLC52A3):c.727C>A (p.Arg243Ser) rs1287029928 0.00001
NM_033409.4(SLC52A3):c.795C>A (p.Ile265=) rs1229887026 0.00001
NM_033409.4(SLC52A3):c.814G>C (p.Asp272His) rs377559449 0.00001
NM_033409.4(SLC52A3):c.834G>A (p.Thr278=) rs756359704 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.954G>A (p.Leu318=) rs147508914 0.00001
NM_033409.4(SLC52A3):c.974C>T (p.Ser325Phe) rs748083229 0.00001
NC_000020.10:g.(?_389402)_(746418_?)del
NC_000020.10:g.(?_741650)_(746438_?)dup
NC_000020.10:g.(?_741670)_(742488_?)dup
NC_000020.10:g.(?_741670)_(746418_?)dup
NC_000020.10:g.(?_744142)_(745909_?)del
NC_000020.11:g.(?_761006)_(765794_?)del
NM_033409.4(SLC52A3):c.1000T>C (p.Tyr334His) rs1986560425
NM_033409.4(SLC52A3):c.1009G>C (p.Ala337Pro)
NM_033409.4(SLC52A3):c.1017C>T (p.Thr339=)
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.1038T>A (p.Pro346=)
NM_033409.4(SLC52A3):c.1038T>G (p.Pro346=)
NM_033409.4(SLC52A3):c.1047G>C (p.Ser349=) rs147369439
NM_033409.4(SLC52A3):c.1062C>G (p.Phe354Leu) rs2122515947
NM_033409.4(SLC52A3):c.1073+11A>C
NM_033409.4(SLC52A3):c.1074-13T>G
NM_033409.4(SLC52A3):c.1074-15C>T
NM_033409.4(SLC52A3):c.1074-16C>G
NM_033409.4(SLC52A3):c.1074-16C>T
NM_033409.4(SLC52A3):c.1074-4C>A
NM_033409.4(SLC52A3):c.1074-8T>C
NM_033409.4(SLC52A3):c.1081C>A (p.Leu361Met)
NM_033409.4(SLC52A3):c.1083G>A (p.Leu361=) rs367957442
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.1101C>G (p.Ser367=)
NM_033409.4(SLC52A3):c.1104G>C (p.Val368=)
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.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.1197+13C>T
NM_033409.4(SLC52A3):c.1197+15G>T rs749673791
NM_033409.4(SLC52A3):c.1198-10G>C
NM_033409.4(SLC52A3):c.1198-5C>G
NM_033409.4(SLC52A3):c.1198-8C>A rs1433006334
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.1206G>C (p.Ser402=)
NM_033409.4(SLC52A3):c.1206G>T (p.Ser402=)
NM_033409.4(SLC52A3):c.1210G>T (p.Val404Leu)
NM_033409.4(SLC52A3):c.1212G>A (p.Val404=) rs1212542259
NM_033409.4(SLC52A3):c.1218C>A (p.Phe406Leu)
NM_033409.4(SLC52A3):c.1221C>T (p.Ser407=) rs575834308
NM_033409.4(SLC52A3):c.1226G>A (p.Cys409Tyr) rs765645474
NM_033409.4(SLC52A3):c.1227C>T (p.Cys409=)
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.1254C>T (p.Gly418=) rs1986458407
NM_033409.4(SLC52A3):c.1257G>T (p.Val419=)
NM_033409.4(SLC52A3):c.125C>T (p.Ser42Phe) rs1986660402
NM_033409.4(SLC52A3):c.1260C>A (p.Val420=) rs1412121788
NM_033409.4(SLC52A3):c.1266C>G (p.Arg422=) rs948343485
NM_033409.4(SLC52A3):c.1273A>C (p.Ser425Arg)
NM_033409.4(SLC52A3):c.1300del (p.Ala434fs)
NM_033409.4(SLC52A3):c.1305G>A (p.Ala435=)
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.1329A>G (p.Gly443=) rs1599955667
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.1353C>G (p.Val451=) rs2122505397
NM_033409.4(SLC52A3):c.1368C>T (p.Leu456=) rs1878825944
NM_033409.4(SLC52A3):c.1374G>A (p.Ser458=)
NM_033409.4(SLC52A3):c.1374G>T (p.Ser458=) rs758484328
NM_033409.4(SLC52A3):c.1380G>C (p.Ala460=)
NM_033409.4(SLC52A3):c.1403_1404insTGCCTTCTGCAATCTGCACTGTCC (p.Phe462_Ala469dup) rs1599955591
NM_033409.4(SLC52A3):c.1407C>G (p.Ala469=) rs1986444095
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.162G>A (p.Gly54=)
NM_033409.4(SLC52A3):c.174C>G (p.Val58=) rs2122526324
NM_033409.4(SLC52A3):c.183C>T (p.Leu61=) rs1372014420
NM_033409.4(SLC52A3):c.197C>G (p.Pro66Arg)
NM_033409.4(SLC52A3):c.228C>T (p.Phe76=) rs1599959406
NM_033409.4(SLC52A3):c.237G>T (p.Leu79=)
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.282T>C (p.Asn94=)
NM_033409.4(SLC52A3):c.287C>A (p.Thr96Asn) rs1986650729
NM_033409.4(SLC52A3):c.291C>G (p.Ser97=)
NM_033409.4(SLC52A3):c.293G>A (p.Trp98Ter)
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.318C>T (p.Ile106=)
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.36C>T (p.Phe12=)
NM_033409.4(SLC52A3):c.378C>T (p.Phe126=) rs1599959231
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.408C>G (p.Tyr136Ter)
NM_033409.4(SLC52A3):c.411C>T (p.Tyr137=)
NM_033409.4(SLC52A3):c.414C>G (p.Leu138=) rs749661470
NM_033409.4(SLC52A3):c.436G>A (p.Gly146Arg)
NM_033409.4(SLC52A3):c.45C>A (p.Gly15=)
NM_033409.4(SLC52A3):c.463G>T (p.Val155Leu) rs1236849359
NM_033409.4(SLC52A3):c.468T>C (p.Ala156=) rs1986639907
NM_033409.4(SLC52A3):c.474C>T (p.Ala158=)
NM_033409.4(SLC52A3):c.481_484dup (p.Gly162fs) rs1383679424
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.51G>A (p.Trp17Ter)
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.525C>T (p.Ser175=) rs143641819
NM_033409.4(SLC52A3):c.542C>A (p.Pro181His)
NM_033409.4(SLC52A3):c.546G>T (p.Thr182=) rs139965967
NM_033409.4(SLC52A3):c.554C>A (p.Thr185Asn) rs1256931487
NM_033409.4(SLC52A3):c.558C>T (p.Asp186=) rs1986633498
NM_033409.4(SLC52A3):c.561C>T (p.Ile187=)
NM_033409.4(SLC52A3):c.564A>C (p.Ala188=)
NM_033409.4(SLC52A3):c.567+17G>A
NM_033409.4(SLC52A3):c.568-11G>A
NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC rs3833341
NM_033409.4(SLC52A3):c.568-4G>T rs2122519249
NM_033409.4(SLC52A3):c.568-6T>C
NM_033409.4(SLC52A3):c.56C>T (p.Thr19Ile)
NM_033409.4(SLC52A3):c.591C>T (p.Ser197=)
NM_033409.4(SLC52A3):c.619T>A (p.Ser207Thr) rs1986585692
NM_033409.4(SLC52A3):c.625C>T (p.Leu209=)
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter) rs778363575
NM_033409.4(SLC52A3):c.639C>T (p.Tyr213=) rs778363575
NM_033409.4(SLC52A3):c.63T>C (p.Asn21=) rs574008733
NM_033409.4(SLC52A3):c.658C>T (p.Pro220Ser)
NM_033409.4(SLC52A3):c.661C>A (p.Leu221Met) rs1599958133
NM_033409.4(SLC52A3):c.661C>T (p.Leu221=)
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.705C>A (p.Leu235=) rs3746806
NM_033409.4(SLC52A3):c.705C>G (p.Leu235=)
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=) rs3746806
NM_033409.4(SLC52A3):c.718G>A (p.Val240Ile)
NM_033409.4(SLC52A3):c.726G>A (p.Gln242=)
NM_033409.4(SLC52A3):c.745G>A (p.Glu249Lys)
NM_033409.4(SLC52A3):c.746A>G (p.Glu249Gly) rs2122518116
NM_033409.4(SLC52A3):c.753del (p.Val252fs) rs1568721373
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.765C>G (p.Leu255=) rs3746805
NM_033409.4(SLC52A3):c.771T>C (p.Asn257=) rs1986575711
NM_033409.4(SLC52A3):c.774C>T (p.Asp258=) rs766515749
NM_033409.4(SLC52A3):c.775C>T (p.Gln259Ter)
NM_033409.4(SLC52A3):c.78G>A (p.Glu26=)
NM_033409.4(SLC52A3):c.790_791del (p.Ser264fs)
NM_033409.4(SLC52A3):c.798G>A (p.Arg266=)
NM_033409.4(SLC52A3):c.802C>A (p.Arg268=) rs145498634
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.816C>T (p.Asp272=)
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.833C>T (p.Thr278Met) rs3746803
NM_033409.4(SLC52A3):c.840C>A (p.Asp280Glu)
NM_033409.4(SLC52A3):c.853C>T (p.Gln285Ter)
NM_033409.4(SLC52A3):c.857G>A (p.Gly286Glu) rs762187343
NM_033409.4(SLC52A3):c.858G>A (p.Gly286=)
NM_033409.4(SLC52A3):c.858G>T (p.Gly286=) rs752020540
NM_033409.4(SLC52A3):c.85del (p.Leu29fs) rs1986662202
NM_033409.4(SLC52A3):c.878C>A (p.Ala293Asp) rs774918391
NM_033409.4(SLC52A3):c.891G>C (p.Pro297=) rs373350870
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.909C>T (p.Ile303=)
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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