ClinVar Miner

List of variants in gene SLC2A10 reported as uncertain significance for arterial tortuosity syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 227
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HGVS dbSNP gnomAD frequency
NM_030777.4(SLC2A10):c.*180A>G rs188370349 0.00321
NM_030777.4(SLC2A10):c.*389C>G rs147684335 0.00243
NM_030777.4(SLC2A10):c.-15C>T rs377142129 0.00166
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=) rs142106322 0.00065
NM_030777.4(SLC2A10):c.*401C>A rs142547155 0.00056
NM_030777.4(SLC2A10):c.*1758A>C rs529567587 0.00034
NM_030777.4(SLC2A10):c.931G>A (p.Val311Ile) rs139932041 0.00026
NM_030777.4(SLC2A10):c.*1731C>T rs762351956 0.00023
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826 0.00023
NM_030777.4(SLC2A10):c.1481A>G (p.Tyr494Cys) rs374854180 0.00021
NM_030777.4(SLC2A10):c.388C>T (p.Arg130Trp) rs201150247 0.00019
NM_030777.4(SLC2A10):c.781G>A (p.Val261Ile) rs372561968 0.00019
NM_030777.4(SLC2A10):c.780C>T (p.Ser260=) rs181500247 0.00016
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) rs201393026 0.00015
NM_030777.4(SLC2A10):c.808G>A (p.Val270Met) rs749220947 0.00015
NM_030777.4(SLC2A10):c.1324G>C (p.Glu442Gln) rs143265363 0.00014
NM_030777.4(SLC2A10):c.1453A>G (p.Thr485Ala) rs138245283 0.00014
NM_030777.4(SLC2A10):c.1600C>T (p.Arg534Cys) rs142577271 0.00014
NM_030777.4(SLC2A10):c.*191C>T rs774020636 0.00012
NM_030777.4(SLC2A10):c.*116C>T rs377528530 0.00011
NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr) rs147710229 0.00011
NM_030777.4(SLC2A10):c.1208G>A (p.Arg403Gln) rs199912561 0.00010
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=) rs199848479 0.00010
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_030777.4(SLC2A10):c.*2203C>A rs528071290 0.00009
NM_030777.4(SLC2A10):c.1225C>T (p.Arg409Cys) rs562212724 0.00009
NM_030777.4(SLC2A10):c.1412-3C>T rs374857656 0.00009
NM_030777.4(SLC2A10):c.1605C>T (p.Ile535=) rs148470005 0.00006
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg) rs75218052 0.00006
NM_030777.4(SLC2A10):c.797G>T (p.Gly266Val) rs369484751 0.00006
NM_030777.4(SLC2A10):c.949G>A (p.Val317Ile) rs781230863 0.00006
NM_030777.4(SLC2A10):c.961G>A (p.Val321Met) rs372596900 0.00006
NM_030777.4(SLC2A10):c.*1000C>T rs886056733 0.00005
NM_030777.4(SLC2A10):c.*1162C>T rs185898725 0.00005
NM_030777.4(SLC2A10):c.*2316C>T rs757116033 0.00005
NM_030777.4(SLC2A10):c.878G>A (p.Arg293His) rs770882223 0.00005
NM_030777.4(SLC2A10):c.*2409A>G rs986161128 0.00004
NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn) rs367623970 0.00004
NM_030777.4(SLC2A10):c.443T>C (p.Leu148Pro) rs863223732 0.00004
NM_030777.4(SLC2A10):c.644G>A (p.Arg215Gln) rs774497964 0.00004
NM_030777.4(SLC2A10):c.671C>G (p.Ala224Gly) rs371261694 0.00004
NM_030777.4(SLC2A10):c.680A>G (p.Asn227Ser) rs959288629 0.00004
NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp) rs145994112 0.00004
NM_030777.4(SLC2A10):c.*1628T>A rs886056734 0.00003
NM_030777.4(SLC2A10):c.*2254del rs886056737 0.00003
NM_030777.4(SLC2A10):c.-60G>T rs886056722 0.00003
NM_030777.4(SLC2A10):c.119T>C (p.Phe40Ser) rs372166877 0.00003
NM_030777.4(SLC2A10):c.1351T>G (p.Cys451Gly) rs199599532 0.00003
NM_030777.4(SLC2A10):c.1402G>A (p.Asp468Asn) rs768345011 0.00003
NM_030777.4(SLC2A10):c.1547G>A (p.Arg516Gln) rs760437795 0.00003
NM_030777.4(SLC2A10):c.1596C>T (p.Tyr532=) rs886056727 0.00003
NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile) rs373375540 0.00003
NM_030777.4(SLC2A10):c.920T>A (p.Met307Lys) rs768142427 0.00003
NM_030777.4(SLC2A10):c.923C>T (p.Ala308Val) rs776373143 0.00003
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe) rs763521707 0.00003
NM_030777.4(SLC2A10):c.-55G>T rs933340480 0.00002
NM_030777.4(SLC2A10):c.1586G>A (p.Gly529Asp) rs750292263 0.00002
NM_030777.4(SLC2A10):c.1601G>A (p.Arg534His) rs746480018 0.00002
NM_030777.4(SLC2A10):c.1616C>T (p.Ala539Val) rs140312420 0.00002
NM_030777.4(SLC2A10):c.416A>G (p.Tyr139Cys) rs139858464 0.00002
NM_030777.4(SLC2A10):c.530T>C (p.Leu177Pro) rs777214287 0.00002
NM_030777.4(SLC2A10):c.562G>C (p.Gly188Arg) rs374246708 0.00002
NM_030777.4(SLC2A10):c.643C>T (p.Arg215Trp) rs200565780 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_030777.4(SLC2A10):c.859G>A (p.Ala287Thr) rs780058786 0.00002
NM_030777.4(SLC2A10):c.877C>T (p.Arg293Cys) rs539783215 0.00002
NM_030777.4(SLC2A10):c.887G>A (p.Arg296His) rs558025597 0.00002
NM_030777.4(SLC2A10):c.*1064G>A rs917707348 0.00001
NM_030777.4(SLC2A10):c.*1394G>A rs775775371 0.00001
NM_030777.4(SLC2A10):c.*182T>G rs886056729 0.00001
NM_030777.4(SLC2A10):c.*1858T>G rs886056735 0.00001
NM_030777.4(SLC2A10):c.*214T>G rs764533992 0.00001
NM_030777.4(SLC2A10):c.*2482T>A rs1414419618 0.00001
NM_030777.4(SLC2A10):c.*414G>T rs1248315391 0.00001
NM_030777.4(SLC2A10):c.*608C>A rs1485666222 0.00001
NM_030777.4(SLC2A10):c.-22A>G rs886056723 0.00001
NM_030777.4(SLC2A10):c.1009G>A (p.Gly337Arg) rs369238826 0.00001
NM_030777.4(SLC2A10):c.1014G>C (p.Gln338His) rs35833600 0.00001
NM_030777.4(SLC2A10):c.1032C>T (p.Asp344=) rs1301992983 0.00001
NM_030777.4(SLC2A10):c.1087C>G (p.Gln363Glu) rs886038934 0.00001
NM_030777.4(SLC2A10):c.1096C>T (p.Pro366Ser) rs774664650 0.00001
NM_030777.4(SLC2A10):c.110_121del (p.Gln37_Gly41delinsArg) rs767211470 0.00001
NM_030777.4(SLC2A10):c.1274T>C (p.Phe425Ser) rs546176728 0.00001
NM_030777.4(SLC2A10):c.1305C>T (p.Leu435=) rs201159437 0.00001
NM_030777.4(SLC2A10):c.1423T>G (p.Leu475Val) rs754355572 0.00001
NM_030777.4(SLC2A10):c.1426T>C (p.Ser476Pro) rs750625663 0.00001
NM_030777.4(SLC2A10):c.142G>C (p.Glu48Gln) rs1252274574 0.00001
NM_030777.4(SLC2A10):c.1439T>A (p.Leu480Gln) rs1407824130 0.00001
NM_030777.4(SLC2A10):c.1457C>A (p.Ala486Asp) rs775211875 0.00001
NM_030777.4(SLC2A10):c.1606G>A (p.Glu536Lys) rs1238866581 0.00001
NM_030777.4(SLC2A10):c.1611C>G (p.Ile537Met) rs1060502314 0.00001
NM_030777.4(SLC2A10):c.163C>T (p.Leu55Phe) rs745611450 0.00001
NM_030777.4(SLC2A10):c.170G>T (p.Gly57Val) rs369796310 0.00001
NM_030777.4(SLC2A10):c.173C>T (p.Ala58Val) rs141310869 0.00001
NM_030777.4(SLC2A10):c.259G>A (p.Ala87Thr) rs1319096126 0.00001
NM_030777.4(SLC2A10):c.311G>A (p.Gly104Asp) rs1060502311 0.00001
NM_030777.4(SLC2A10):c.367G>A (p.Val123Met) rs770619266 0.00001
NM_030777.4(SLC2A10):c.368T>C (p.Val123Ala) rs1309491576 0.00001
NM_030777.4(SLC2A10):c.389G>A (p.Arg130Gln) rs1438650724 0.00001
NM_030777.4(SLC2A10):c.432C>T (p.Thr144=) rs371344477 0.00001
NM_030777.4(SLC2A10):c.455C>T (p.Ala152Val) rs775987124 0.00001
NM_030777.4(SLC2A10):c.475G>T (p.Gly159Cys) rs761947206 0.00001
NM_030777.4(SLC2A10):c.501G>A (p.Met167Ile) rs763979126 0.00001
NM_030777.4(SLC2A10):c.505G>A (p.Gly169Ser) rs35151194 0.00001
NM_030777.4(SLC2A10):c.517G>A (p.Ala173Thr) rs1060502312 0.00001
NM_030777.4(SLC2A10):c.577G>A (p.Ala193Thr) rs780965802 0.00001
NM_030777.4(SLC2A10):c.589G>T (p.Asp197Tyr) rs761874387 0.00001
NM_030777.4(SLC2A10):c.601C>T (p.Leu201Phe) rs199861432 0.00001
NM_030777.4(SLC2A10):c.613G>A (p.Glu205Lys) rs917083925 0.00001
NM_030777.4(SLC2A10):c.646T>A (p.Tyr216Asn) rs1269438372 0.00001
NM_030777.4(SLC2A10):c.67G>A (p.Gly23Ser) rs760225405 0.00001
NM_030777.4(SLC2A10):c.697A>C (p.Thr233Pro) rs190252962 0.00001
NM_030777.4(SLC2A10):c.727C>A (p.Gln243Lys) rs1434246419 0.00001
NM_030777.4(SLC2A10):c.810G>C (p.Val270=) rs774452914 0.00001
NM_030777.4(SLC2A10):c.826C>A (p.Leu276Ile) rs760309737 0.00001
NM_030777.4(SLC2A10):c.886C>T (p.Arg296Cys) rs552106000 0.00001
NM_030777.4(SLC2A10):c.995T>C (p.Val332Ala) rs570363463 0.00001
NC_000020.10:g.(?_45362375)_(45362493_?)del
NM_030777.4(SLC2A10):c.*1143G>T rs545129749
NM_030777.4(SLC2A10):c.*1230C>T rs1980503486
NM_030777.4(SLC2A10):c.*1249G>A rs940735282
NM_030777.4(SLC2A10):c.*1502C>T rs1980516262
NM_030777.4(SLC2A10):c.*1715G>A rs1980525551
NM_030777.4(SLC2A10):c.*171C>T rs886056728
NM_030777.4(SLC2A10):c.*194G>A rs192739192
NM_030777.4(SLC2A10):c.*2018C>T rs886056736
NM_030777.4(SLC2A10):c.*2098A>G rs1600677122
NM_030777.4(SLC2A10):c.*2137C>G rs1980545509
NM_030777.4(SLC2A10):c.*2416_*2418del rs528431199
NM_030777.4(SLC2A10):c.*269del rs113206025
NM_030777.4(SLC2A10):c.*470_*472del rs3091691
NM_030777.4(SLC2A10):c.*472dup rs3091691
NM_030777.4(SLC2A10):c.*579G>C rs1980468037
NM_030777.4(SLC2A10):c.*659G>A rs868705835
NM_030777.4(SLC2A10):c.*712A>G rs886056732
NM_030777.4(SLC2A10):c.*852T>C rs747965744
NM_030777.4(SLC2A10):c.*898A>C rs777660140
NM_030777.4(SLC2A10):c.*926C>T rs1980487818
NM_030777.4(SLC2A10):c.1002T>A (p.Asn334Lys) rs377238665
NM_030777.4(SLC2A10):c.1012C>A (p.Gln338Lys)
NM_030777.4(SLC2A10):c.104C>T (p.Pro35Leu) rs758877524
NM_030777.4(SLC2A10):c.1057C>G (p.Leu353Val) rs200196034
NM_030777.4(SLC2A10):c.1132C>G (p.Pro378Ala)
NM_030777.4(SLC2A10):c.1154C>T (p.Ala385Val) rs79849424
NM_030777.4(SLC2A10):c.1162C>T (p.Arg388Trp)
NM_030777.4(SLC2A10):c.1168G>A (p.Ala390Thr) rs1281543071
NM_030777.4(SLC2A10):c.1183C>T (p.Leu395Phe) rs1979943098
NM_030777.4(SLC2A10):c.1192C>T (p.Pro398Ser)
NM_030777.4(SLC2A10):c.1216G>A (p.Ala406Thr) rs1301553883
NM_030777.4(SLC2A10):c.1217C>A (p.Ala406Glu) rs752635709
NM_030777.4(SLC2A10):c.1225C>G (p.Arg409Gly) rs562212724
NM_030777.4(SLC2A10):c.1265C>G (p.Ala422Gly) rs1600668873
NM_030777.4(SLC2A10):c.1289-3T>G
NM_030777.4(SLC2A10):c.1292C>T (p.Thr431Ile)
NM_030777.4(SLC2A10):c.1325A>G (p.Glu442Gly)
NM_030777.4(SLC2A10):c.1337G>C (p.Arg446Thr) rs761324818
NM_030777.4(SLC2A10):c.1345G>A (p.Ala449Thr)
NM_030777.4(SLC2A10):c.1375A>C (p.Asn459His) rs781676521
NM_030777.4(SLC2A10):c.1375A>G (p.Asn459Asp) rs781676521
NM_030777.4(SLC2A10):c.137A>G (p.Glu46Gly) rs756331165
NM_030777.4(SLC2A10):c.1384A>G (p.Ile462Val) rs545801780
NM_030777.4(SLC2A10):c.1387A>C (p.Ser463Arg) rs771091234
NM_030777.4(SLC2A10):c.1403A>G (p.Asp468Gly)
NM_030777.4(SLC2A10):c.1408A>T (p.Ile470Phe)
NM_030777.4(SLC2A10):c.1412G>A (p.Gly471Asp)
NM_030777.4(SLC2A10):c.1414A>T (p.Thr472Ser) rs1600671602
NM_030777.4(SLC2A10):c.1448G>A (p.Gly483Glu)
NM_030777.4(SLC2A10):c.1456G>A (p.Ala486Thr) rs759205774
NM_030777.4(SLC2A10):c.147C>G (p.Phe49Leu) rs1600666532
NM_030777.4(SLC2A10):c.1489G>A (p.Val497Ile) rs758538766
NM_030777.4(SLC2A10):c.1539G>C (p.Gln513His) rs1334989775
NM_030777.4(SLC2A10):c.1547G>C (p.Arg516Pro) rs760437795
NM_030777.4(SLC2A10):c.1548-2A>T rs2123074047
NM_030777.4(SLC2A10):c.1573del (p.Gln525fs) rs2123074215
NM_030777.4(SLC2A10):c.1583C>G (p.Thr528Ser) rs1379143650
NM_030777.4(SLC2A10):c.1586G>C (p.Gly529Ala)
NM_030777.4(SLC2A10):c.1588A>G (p.Ile530Val)
NM_030777.4(SLC2A10):c.1604T>G (p.Ile535Ser) rs2123074423
NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro) rs1555887820
NM_030777.4(SLC2A10):c.193G>T (p.Gly65Cys) rs1979815162
NM_030777.4(SLC2A10):c.197G>A (p.Gly66Asp) rs1555887829
NM_030777.4(SLC2A10):c.1A>G (p.Met1Val)
NM_030777.4(SLC2A10):c.206T>C (p.Ile69Thr) rs1979816863
NM_030777.4(SLC2A10):c.209A>G (p.Asp70Gly) rs1979817884
NM_030777.4(SLC2A10):c.218G>A (p.Gly73Asp) rs1979819377
NM_030777.4(SLC2A10):c.224A>G (p.Lys75Arg) rs2123043051
NM_030777.4(SLC2A10):c.278G>T (p.Gly93Val)
NM_030777.4(SLC2A10):c.296C>T (p.Ala99Val)
NM_030777.4(SLC2A10):c.300G>C (p.Trp100Cys) rs886056725
NM_030777.4(SLC2A10):c.331G>A (p.Ala111Thr)
NM_030777.4(SLC2A10):c.356G>A (p.Cys119Tyr)
NM_030777.4(SLC2A10):c.365A>G (p.Tyr122Cys) rs1979838213
NM_030777.4(SLC2A10):c.370T>C (p.Ser124Pro)
NM_030777.4(SLC2A10):c.397G>A (p.Gly133Arg) rs1555887907
NM_030777.4(SLC2A10):c.421G>A (p.Ala141Thr) rs756110797
NM_030777.4(SLC2A10):c.433G>A (p.Val145Met) rs772308135
NM_030777.4(SLC2A10):c.476G>C (p.Gly159Ala) rs983582627
NM_030777.4(SLC2A10):c.47T>C (p.Leu16Ser)
NM_030777.4(SLC2A10):c.4G>A (p.Gly2Ser)
NM_030777.4(SLC2A10):c.520C>G (p.Pro174Ala) rs1271983394
NM_030777.4(SLC2A10):c.533A>G (p.Gln178Arg) rs1326794091
NM_030777.4(SLC2A10):c.560C>T (p.Ala187Val) rs774586340
NM_030777.4(SLC2A10):c.5G>C (p.Gly2Ala) rs1555887782
NM_030777.4(SLC2A10):c.611G>A (p.Gly204Asp) rs1555887956
NM_030777.4(SLC2A10):c.617C>T (p.Ala206Val) rs879052180
NM_030777.4(SLC2A10):c.625C>T (p.Leu209=) rs748662135
NM_030777.4(SLC2A10):c.632C>G (p.Pro211Arg)
NM_030777.4(SLC2A10):c.632C>T (p.Pro211Leu) rs151324893
NM_030777.4(SLC2A10):c.65T>G (p.Phe22Cys) rs1060502313
NM_030777.4(SLC2A10):c.673C>T (p.Arg225Cys) rs199659394
NM_030777.4(SLC2A10):c.71A>T (p.Tyr24Phe) rs886056724
NM_030777.4(SLC2A10):c.736G>A (p.Gly246Arg) rs1568985955
NM_030777.4(SLC2A10):c.739C>A (p.Gln247Lys)
NM_030777.4(SLC2A10):c.797G>A (p.Gly266Glu) rs369484751
NM_030777.4(SLC2A10):c.82G>A (p.Val28Ile)
NM_030777.4(SLC2A10):c.851C>A (p.Thr284Asn) rs765689972
NM_030777.4(SLC2A10):c.8A>C (p.His3Pro) rs1254965156
NM_030777.4(SLC2A10):c.905C>G (p.Ala302Gly)
NM_030777.4(SLC2A10):c.95C>G (p.Ala32Gly)
NM_030777.4(SLC2A10):c.965C>T (p.Pro322Leu) rs886056726
NM_030777.4(SLC2A10):c.976G>C (p.Gly326Arg) rs1445963609
NM_030777.4(SLC2A10):c.977G>A (p.Gly326Asp)
NM_030777.4(SLC2A10):c.979C>A (p.Pro327Thr)
NM_030777.4(SLC2A10):c.991G>T (p.Ala331Ser) rs2123049348

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