ClinVar Miner

List of variants in gene SLC2A10 studied for Arterial tortuosity syndrome

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 272
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HGVS dbSNP
NC_000020.10:g.(?_45362375)_(45362493_?)del
NC_000020.11:g.(?_46709717)_(46733854_?)del
NC_000020.11:g.(?_46709727)_(46733844_?)del
NM_030777.4(SLC2A10):c.*1000C>T rs886056733
NM_030777.4(SLC2A10):c.*1064G>A
NM_030777.4(SLC2A10):c.*1100T>G rs6094450
NM_030777.4(SLC2A10):c.*1141G>A
NM_030777.4(SLC2A10):c.*1143G>T rs545129749
NM_030777.4(SLC2A10):c.*1162C>T rs185898725
NM_030777.4(SLC2A10):c.*116C>T
NM_030777.4(SLC2A10):c.*1230C>T
NM_030777.4(SLC2A10):c.*1249G>A
NM_030777.4(SLC2A10):c.*1272G>C rs562491351
NM_030777.4(SLC2A10):c.*1293T>C rs707507
NM_030777.4(SLC2A10):c.*1340G>A rs78189695
NM_030777.4(SLC2A10):c.*1394G>A rs775775371
NM_030777.4(SLC2A10):c.*143G>A rs35691491
NM_030777.4(SLC2A10):c.*1449T>C
NM_030777.4(SLC2A10):c.*1502C>T
NM_030777.4(SLC2A10):c.*1628T>A rs886056734
NM_030777.4(SLC2A10):c.*1715G>A
NM_030777.4(SLC2A10):c.*171C>T rs886056728
NM_030777.4(SLC2A10):c.*1731C>T rs762351956
NM_030777.4(SLC2A10):c.*1758A>C
NM_030777.4(SLC2A10):c.*180A>G rs188370349
NM_030777.4(SLC2A10):c.*182T>G rs886056729
NM_030777.4(SLC2A10):c.*1858T>G rs886056735
NM_030777.4(SLC2A10):c.*191C>T
NM_030777.4(SLC2A10):c.*194G>A
NM_030777.4(SLC2A10):c.*194G>T
NM_030777.4(SLC2A10):c.*2018C>T rs886056736
NM_030777.4(SLC2A10):c.*2098A>G
NM_030777.4(SLC2A10):c.*2137C>G
NM_030777.4(SLC2A10):c.*214T>G
NM_030777.4(SLC2A10):c.*2150C>A rs6012025
NM_030777.4(SLC2A10):c.*2176T>C rs1059217
NM_030777.4(SLC2A10):c.*2203C>A rs528071290
NM_030777.4(SLC2A10):c.*2254del rs886056737
NM_030777.4(SLC2A10):c.*2285T>G rs1136540
NM_030777.4(SLC2A10):c.*2316C>T rs757116033
NM_030777.4(SLC2A10):c.*2365T>A rs1136544
NM_030777.4(SLC2A10):c.*2409A>G
NM_030777.4(SLC2A10):c.*2416_*2418del rs528431199
NM_030777.4(SLC2A10):c.*2482T>A
NM_030777.4(SLC2A10):c.*269del rs113206025
NM_030777.4(SLC2A10):c.*280C>T rs6018009
NM_030777.4(SLC2A10):c.*29C>G rs34965637
NM_030777.4(SLC2A10):c.*32T>C
NM_030777.4(SLC2A10):c.*334A>G rs6018010
NM_030777.4(SLC2A10):c.*389C>G rs147684335
NM_030777.4(SLC2A10):c.*401C>A rs142547155
NM_030777.4(SLC2A10):c.*410A>C
NM_030777.4(SLC2A10):c.*414G>T
NM_030777.4(SLC2A10):c.*470_*472del rs3091691
NM_030777.4(SLC2A10):c.*472dup rs3091691
NM_030777.4(SLC2A10):c.*478G>A rs113058599
NM_030777.4(SLC2A10):c.*50T>C rs36103903
NM_030777.4(SLC2A10):c.*513T>C rs111352987
NM_030777.4(SLC2A10):c.*56A>G rs112821000
NM_030777.4(SLC2A10):c.*579G>C
NM_030777.4(SLC2A10):c.*608C>A
NM_030777.4(SLC2A10):c.*641G>A
NM_030777.4(SLC2A10):c.*659G>A
NM_030777.4(SLC2A10):c.*712A>G rs886056732
NM_030777.4(SLC2A10):c.*809C>T rs114681513
NM_030777.4(SLC2A10):c.*852T>C
NM_030777.4(SLC2A10):c.*898A>C
NM_030777.4(SLC2A10):c.*926C>T
NM_030777.4(SLC2A10):c.*958C>T rs189464814
NM_030777.4(SLC2A10):c.-15C>T rs377142129
NM_030777.4(SLC2A10):c.-22A>G rs886056723
NM_030777.4(SLC2A10):c.-27C>T rs149481442
NM_030777.4(SLC2A10):c.-55G>T
NM_030777.4(SLC2A10):c.-60G>T rs886056722
NM_030777.4(SLC2A10):c.1002T>A (p.Asn334Lys)
NM_030777.4(SLC2A10):c.1008C>T (p.Thr336=) rs370173604
NM_030777.4(SLC2A10):c.1009G>A (p.Gly337Arg) rs369238826
NM_030777.4(SLC2A10):c.1010G>C (p.Gly337Ala) rs150745395
NM_030777.4(SLC2A10):c.1014G>C (p.Gln338His) rs35833600
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=) rs1301992983
NM_030777.4(SLC2A10):c.104C>T (p.Pro35Leu)
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val) rs200196034
NM_030777.4(SLC2A10):c.1079A>G (p.Asn360Ser)
NM_030777.4(SLC2A10):c.1087C>G (p.Gln363Glu) rs886038934
NM_030777.4(SLC2A10):c.1096C>T (p.Pro366Ser) rs774664650
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly) rs79849424
NM_030777.4(SLC2A10):c.1154C>T (p.Ala385Val)
NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn) rs367623970
NM_030777.4(SLC2A10):c.1183C>T (p.Leu395Phe)
NM_030777.4(SLC2A10):c.1185C>T (p.Leu395=)
NM_030777.4(SLC2A10):c.1187C>T (p.Pro396Leu) rs755654519
NM_030777.4(SLC2A10):c.119T>C (p.Phe40Ser) rs372166877
NM_030777.4(SLC2A10):c.1203C>T (p.Pro401=) rs368021257
NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr) rs147710229
NM_030777.4(SLC2A10):c.1208G>A (p.Arg403Gln) rs199912561
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=) rs139155480
NM_030777.4(SLC2A10):c.1216G>A (p.Ala406Thr)
NM_030777.4(SLC2A10):c.1225C>G (p.Arg409Gly)
NM_030777.4(SLC2A10):c.1225C>T (p.Arg409Cys) rs562212724
NM_030777.4(SLC2A10):c.1233C>T (p.Thr411=) rs778452693
NM_030777.4(SLC2A10):c.1234G>A (p.Ala412Thr) rs746203433
NM_030777.4(SLC2A10):c.1269C>T (p.Phe423=) rs1057524067
NM_030777.4(SLC2A10):c.1274T>C (p.Phe425Ser) rs546176728
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) rs121908172
NM_030777.4(SLC2A10):c.1288+10G>A rs76315093
NM_030777.4(SLC2A10):c.1288+2T>C rs768848335
NM_030777.4(SLC2A10):c.1289-6C>T rs199967429
NM_030777.4(SLC2A10):c.1299T>C (p.Leu433=) rs879632885
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=) rs201159437
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) rs763220502
NM_030777.4(SLC2A10):c.1324G>C (p.Glu442Gln) rs143265363
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) rs370547023
NM_030777.4(SLC2A10):c.1334G>A (p.Gly445Glu) rs753723351
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) rs587776600
NM_030777.4(SLC2A10):c.1351T>G (p.Cys451Gly) rs199599532
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) rs201393026
NM_030777.4(SLC2A10):c.1371G>A (p.Ala457=) rs558894862
NM_030777.4(SLC2A10):c.1375A>C (p.Asn459His)
NM_030777.4(SLC2A10):c.1377C>T (p.Asn459=) rs756207829
NM_030777.4(SLC2A10):c.1387A>C (p.Ser463Arg) rs771091234
NM_030777.4(SLC2A10):c.1393_1394del (p.Ser465fs)
NM_030777.4(SLC2A10):c.1401C>T (p.Leu467=) rs774586341
NM_030777.4(SLC2A10):c.1402G>A (p.Asp468Asn) rs768345011
NM_030777.4(SLC2A10):c.1411+1G>A rs864309479
NM_030777.4(SLC2A10):c.1411+480_1547+299del
NM_030777.4(SLC2A10):c.1412-3C>T rs374857656
NM_030777.4(SLC2A10):c.1415C>T (p.Thr472Ile) rs563376340
NM_030777.4(SLC2A10):c.1423T>G (p.Leu475Val) rs754355572
NM_030777.4(SLC2A10):c.1426T>C (p.Ser476Pro)
NM_030777.4(SLC2A10):c.1443C>G (p.Leu481=)
NM_030777.4(SLC2A10):c.1446C>T (p.Tyr482=) rs150398871
NM_030777.4(SLC2A10):c.1455C>T (p.Thr485=) rs1285063741
NM_030777.4(SLC2A10):c.1456G>A (p.Ala486Thr) rs759205774
NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=) rs142639587
NM_030777.4(SLC2A10):c.1465G>C (p.Gly489Arg)
NM_030777.4(SLC2A10):c.147C>G (p.Phe49Leu) rs1600666532
NM_030777.4(SLC2A10):c.1481A>G (p.Tyr494Cys) rs374854180
NM_030777.4(SLC2A10):c.1489G>A (p.Val497Ile) rs758538766
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497
NM_030777.4(SLC2A10):c.1536C>T (p.Phe512=) rs745307904
NM_030777.4(SLC2A10):c.1539G>C (p.Gln513His) rs1334989775
NM_030777.4(SLC2A10):c.1541A>G (p.Lys514Arg) rs41283344
NM_030777.4(SLC2A10):c.1547G>A (p.Arg516Gln) rs760437795
NM_030777.4(SLC2A10):c.1547G>C (p.Arg516Pro) rs760437795
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=) rs116344406
NM_030777.4(SLC2A10):c.1552A>G (p.Thr518Ala) rs6018008
NM_030777.4(SLC2A10):c.1559G>A (p.Ser520Asn) rs573480396
NM_030777.4(SLC2A10):c.1566C>T (p.Gly522=)
NM_030777.4(SLC2A10):c.1571G>A (p.Arg524Lys) rs370141550
NM_030777.4(SLC2A10):c.1573del (p.Gln525fs)
NM_030777.4(SLC2A10):c.1586G>A (p.Gly529Asp) rs750292263
NM_030777.4(SLC2A10):c.1593G>A (p.Pro531=) rs148424607
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=) rs886056727
NM_030777.4(SLC2A10):c.1600C>T (p.Arg534Cys) rs142577271
NM_030777.4(SLC2A10):c.1601G>A (p.Arg534His) rs746480018
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=) rs148470005
NM_030777.4(SLC2A10):c.1606G>A (p.Glu536Lys) rs1238866581
NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val) rs7348121
NM_030777.4(SLC2A10):c.1611C>G (p.Ile537Met) rs1060502314
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=) rs114974138
NM_030777.4(SLC2A10):c.170G>T (p.Gly57Val)
NM_030777.4(SLC2A10):c.173C>T (p.Ala58Val)
NM_030777.4(SLC2A10):c.180C>T (p.Leu60=) rs371988251
NM_030777.4(SLC2A10):c.189G>C (p.Leu63=) rs890578209
NM_030777.4(SLC2A10):c.193G>T (p.Gly65Cys)
NM_030777.4(SLC2A10):c.197G>A (p.Gly66Asp) rs1555887829
NM_030777.4(SLC2A10):c.206T>C (p.Ile69Thr)
NM_030777.4(SLC2A10):c.209A>G (p.Asp70Gly)
NM_030777.4(SLC2A10):c.218G>A (p.Gly73Asp)
NM_030777.4(SLC2A10):c.237C>T (p.Leu79=) rs201323237
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_030777.4(SLC2A10):c.252G>A (p.Val84=) rs878855129
NM_030777.4(SLC2A10):c.264C>G (p.Gly88=) rs768512276
NM_030777.4(SLC2A10):c.267C>T (p.Ser89=) rs747559824
NM_030777.4(SLC2A10):c.300G>C (p.Trp100Cys) rs886056725
NM_030777.4(SLC2A10):c.306C>T (p.Val102=) rs530216827
NM_030777.4(SLC2A10):c.311G>A (p.Gly104Asp) rs1060502311
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243
NM_030777.4(SLC2A10):c.315C>T (p.Arg105=) rs150800734
NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr) rs6094438
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826
NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile) rs373375540
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) rs199848479
NM_030777.4(SLC2A10):c.365A>G (p.Tyr122Cys)
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188
NM_030777.4(SLC2A10):c.367G>A (p.Val123Met) rs770619266
NM_030777.4(SLC2A10):c.368T>C (p.Val123Ala)
NM_030777.4(SLC2A10):c.388C>T (p.Arg130Trp) rs201150247
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173
NM_030777.4(SLC2A10):c.395G>T (p.Arg132Leu) rs376346077
NM_030777.4(SLC2A10):c.397G>A (p.Gly133Arg) rs1555887907
NM_030777.4(SLC2A10):c.4+10G>A
NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter) rs572620317
NM_030777.4(SLC2A10):c.421G>A (p.Ala141Thr) rs756110797
NM_030777.4(SLC2A10):c.425G>T (p.Gly142Val) rs864309480
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=) rs371344477
NM_030777.4(SLC2A10):c.433G>A (p.Val145Met) rs772308135
NM_030777.4(SLC2A10):c.455C>T (p.Ala152Val) rs775987124
NM_030777.4(SLC2A10):c.5-9_5-7del rs1600666288
NM_030777.4(SLC2A10):c.501G>A (p.Met167Ile)
NM_030777.4(SLC2A10):c.505G>A (p.Gly169Ser) rs35151194
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter) rs80358229
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610
NM_030777.4(SLC2A10):c.517G>A (p.Ala173Thr) rs1060502312
NM_030777.4(SLC2A10):c.530T>C (p.Leu177Pro) rs777214287
NM_030777.4(SLC2A10):c.533A>G (p.Gln178Arg)
NM_030777.4(SLC2A10):c.560C>T (p.Ala187Val)
NM_030777.4(SLC2A10):c.562G>C (p.Gly188Arg)
NM_030777.4(SLC2A10):c.577G>A (p.Ala193Thr) rs780965802
NM_030777.4(SLC2A10):c.581C>T (p.Thr194Ile) rs763889166
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg) rs75218052
NM_030777.4(SLC2A10):c.5G>C (p.Gly2Ala) rs1555887782
NM_030777.4(SLC2A10):c.601C>T (p.Leu201Phe) rs199861432
NM_030777.4(SLC2A10):c.611G>A (p.Gly204Asp) rs1555887956
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491
NM_030777.4(SLC2A10):c.617C>T (p.Ala206Val)
NM_030777.4(SLC2A10):c.621C>G (p.Pro207=)
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=) rs748662135
NM_030777.4(SLC2A10):c.630C>T (p.Gly210=) rs142431229
NM_030777.4(SLC2A10):c.632C>T (p.Pro211Leu)
NM_030777.4(SLC2A10):c.645G>C (p.Arg215=)
NM_030777.4(SLC2A10):c.646T>A (p.Tyr216Asn)
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) rs1015798796
NM_030777.4(SLC2A10):c.65T>G (p.Phe22Cys) rs1060502313
NM_030777.4(SLC2A10):c.671C>G (p.Ala224Gly) rs371261694
NM_030777.4(SLC2A10):c.673C>T (p.Arg225Cys) rs199659394
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His) rs34295241
NM_030777.4(SLC2A10):c.67G>A (p.Gly23Ser)
NM_030777.4(SLC2A10):c.681C>T (p.Asn227=)
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter) rs756457861
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960
NM_030777.4(SLC2A10):c.696C>G (p.Thr232=) rs138679634
NM_030777.4(SLC2A10):c.697A>C (p.Thr233Pro) rs190252962
NM_030777.4(SLC2A10):c.71A>T (p.Tyr24Phe) rs886056724
NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs) rs864309481
NM_030777.4(SLC2A10):c.736G>A (p.Gly246Arg) rs1568985955
NM_030777.4(SLC2A10):c.737G>A (p.Gly246Glu) rs564317065
NM_030777.4(SLC2A10):c.756C>A (p.Cys252Ter) rs864309478
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=) rs181500247
NM_030777.4(SLC2A10):c.781G>A (p.Val261Ile) rs372561968
NM_030777.4(SLC2A10):c.792T>C (p.His264=) rs377031320
NM_030777.4(SLC2A10):c.797G>A (p.Gly266Glu) rs369484751
NM_030777.4(SLC2A10):c.797G>T (p.Gly266Val) rs369484751
NM_030777.4(SLC2A10):c.808G>A (p.Val270Met)
NM_030777.4(SLC2A10):c.810G>C (p.Val270=) rs774452914
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006
NM_030777.4(SLC2A10):c.826C>A (p.Leu276Ile)
NM_030777.4(SLC2A10):c.831C>A (p.Gly277=)
NM_030777.4(SLC2A10):c.831C>T (p.Gly277=)
NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp) rs145994112
NM_030777.4(SLC2A10):c.858C>T (p.Thr286=) rs758420381
NM_030777.4(SLC2A10):c.873G>A (p.Val291=) rs755197578
NM_030777.4(SLC2A10):c.876C>A (p.Asp292Glu) rs777604168
NM_030777.4(SLC2A10):c.877C>T (p.Arg293Cys)
NM_030777.4(SLC2A10):c.878G>A (p.Arg293His) rs770882223
NM_030777.4(SLC2A10):c.886C>T (p.Arg296Cys)
NM_030777.4(SLC2A10):c.887G>A (p.Arg296His) rs558025597
NM_030777.4(SLC2A10):c.8A>C (p.His3Pro) rs1254965156
NM_030777.4(SLC2A10):c.920T>A (p.Met307Lys) rs768142427
NM_030777.4(SLC2A10):c.924C>T (p.Ala308=) rs377173165
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile) rs139932041
NM_030777.4(SLC2A10):c.948C>T (p.Leu316=) rs755109002
NM_030777.4(SLC2A10):c.949G>A (p.Val317Ile)
NM_030777.4(SLC2A10):c.960C>T (p.Ala320=)
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met) rs372596900
NM_030777.4(SLC2A10):c.961del (p.Val321fs) rs587776599
NM_030777.4(SLC2A10):c.965C>T (p.Pro322Leu) rs886056726
NM_030777.4(SLC2A10):c.995T>C (p.Val332Ala) rs570363463
NM_030777.4(SLC2A10):c.9C>T (p.His3=) rs1423610543

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