ClinVar Miner

List of variants studied for Creatine transporter deficiency by ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen

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Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.1016+9C>T rs190690083 0.00047
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr) rs374163604 0.00032
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met) rs149024147 0.00032
NM_005629.4(SLC6A8):c.645-14C>T rs782227426 0.00021
NM_005629.4(SLC6A8):c.826C>T (p.Leu276=) rs138634140 0.00011
NM_005629.4(SLC6A8):c.87G>C (p.Gly29=) rs782373793 0.00011
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) rs868950793 0.00011
NM_005629.4(SLC6A8):c.912+9G>A rs782694291 0.00010
NM_005629.4(SLC6A8):c.26G>T (p.Gly9Val) rs1198790754 0.00006
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr) rs782790088 0.00005
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met) rs782208622 0.00005
NM_005629.4(SLC6A8):c.283G>A (p.Val95Ile) rs782040427 0.00004
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val) rs782551106 0.00003
NM_005629.4(SLC6A8):c.70G>C (p.Ala24Pro) rs1557043775 0.00002
NM_005629.4(SLC6A8):c.76G>A (p.Gly26Arg) rs1233444890 0.00002
NM_005629.4(SLC6A8):c.833G>A (p.Arg278His) rs782802482 0.00002
NM_005629.4(SLC6A8):c.463G>A (p.Gly155Ser) rs782174461 0.00001
NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn) rs1261794545 0.00001
NM_005629.4(SLC6A8):c.557G>A (p.Arg186His) rs372601430 0.00001
NM_005629.4(SLC6A8):c.56A>C (p.Lys19Thr) rs1238996324 0.00001
NM_005629.4(SLC6A8):c.89C>T (p.Ala30Val) rs782598816 0.00001
NC_000023.11:g.153693904GGGCC[3]
NC_000023.11:g.153694345del rs1603217468
NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del) rs782433037
NM_005629.4(SLC6A8):c.1016+21_1017-42del
NM_005629.4(SLC6A8):c.1016+2T>C rs1557045066
NM_005629.4(SLC6A8):c.1056CTT[1] (p.Phe354del)
NM_005629.4(SLC6A8):c.1076TCT[1] (p.Phe360del)
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
NM_005629.4(SLC6A8):c.1141+37G>A
NM_005629.4(SLC6A8):c.1141G>C (p.Gly381Arg) rs122453114
NM_005629.4(SLC6A8):c.1142-2A>G
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu) rs1557045250
NM_005629.4(SLC6A8):c.1169C>T (p.Pro390Leu) rs2148363661
NM_005629.4(SLC6A8):c.116G>A (p.Gly39Asp) rs781997638
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp) rs1557045267
NM_005629.4(SLC6A8):c.1181C>A (p.Thr394Lys)
NM_005629.4(SLC6A8):c.1190C>T (p.Pro397Leu)
NM_005629.4(SLC6A8):c.11A>G (p.Lys4Arg)
NM_005629.4(SLC6A8):c.1206G>A (p.Trp402Ter)
NM_005629.4(SLC6A8):c.1210G>C (p.Ala404Pro)
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del) rs80338740
NM_005629.4(SLC6A8):c.1235_1248del (p.Leu412fs)
NM_005629.4(SLC6A8):c.1255-35G>A
NM_005629.4(SLC6A8):c.1261G>C (p.Gly421Arg)
NM_005629.4(SLC6A8):c.1271G>A (p.Gly424Asp)
NM_005629.4(SLC6A8):c.1299_1309del (p.Pro434fs)
NM_005629.4(SLC6A8):c.1318dup (p.Arg440fs)
NM_005629.4(SLC6A8):c.1324del (p.Gln442fs)
NM_005629.4(SLC6A8):c.1372_1375del (p.Asp458fs)
NM_005629.4(SLC6A8):c.1381A>G (p.Met461Val)
NM_005629.4(SLC6A8):c.1392+24_1393-30del
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg) rs1603217473
NM_005629.4(SLC6A8):c.1417_1420del (p.Phe473fs)
NM_005629.4(SLC6A8):c.1421A>G (p.Asp474Gly)
NM_005629.4(SLC6A8):c.1428C>G (p.Tyr476Ter)
NM_005629.4(SLC6A8):c.1430C>T (p.Ser477Leu) rs2148364216
NM_005629.4(SLC6A8):c.1432dup (p.Ala478fs)
NM_005629.4(SLC6A8):c.1456C>T (p.Gln486Ter)
NM_005629.4(SLC6A8):c.145G>C (p.Val49Leu) rs1463935788
NM_005629.4(SLC6A8):c.1473C>G (p.Cys491Trp) rs122453118
NM_005629.4(SLC6A8):c.1495+2T>G
NM_005629.4(SLC6A8):c.1495+5G>C
NM_005629.4(SLC6A8):c.1519_1543del (p.Ile507fs)
NM_005629.4(SLC6A8):c.1529T>A (p.Met510Lys)
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter) rs122453113
NM_005629.4(SLC6A8):c.1554G>A (p.Trp518Ter)
NM_005629.4(SLC6A8):c.1556_1557insTTTC (p.Met519fs)
NM_005629.4(SLC6A8):c.1592_1639dup (p.Gly533fs)
NM_005629.4(SLC6A8):c.1596+24_1597-41dup rs782797794
NM_005629.4(SLC6A8):c.1601TCTTCA[1] (p.534IF[1])
NM_005629.4(SLC6A8):c.1629G>A (p.Glu543=)
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu) rs397515558
NM_005629.4(SLC6A8):c.1654G>T (p.Val552Leu)
NM_005629.4(SLC6A8):c.1667G>A (p.Trp556Ter)
NM_005629.4(SLC6A8):c.1681G>C (p.Gly561Arg)
NM_005629.4(SLC6A8):c.1685G>A (p.Trp562Ter)
NM_005629.4(SLC6A8):c.1690_1703del (p.Phe564fs)
NM_005629.4(SLC6A8):c.1699T>C (p.Ser567Pro)
NM_005629.4(SLC6A8):c.1703C>A (p.Ser568Tyr) rs1603217815
NM_005629.4(SLC6A8):c.191_193del (p.Ser64del) rs2091437670
NM_005629.4(SLC6A8):c.1A>G (p.Met1Val)
NM_005629.4(SLC6A8):c.219del (p.Asn74fs)
NM_005629.4(SLC6A8):c.259G>A (p.Gly87Arg) rs122453115
NM_005629.4(SLC6A8):c.262+1G>T
NM_005629.4(SLC6A8):c.301G>A (p.Gly101Arg)
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del) rs80338739
NM_005629.4(SLC6A8):c.338G>A (p.Gly113Asp)
NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys) rs1569539246
NM_005629.4(SLC6A8):c.342G>C (p.Gln114His) rs2091449037
NM_005629.4(SLC6A8):c.354C>T (p.Ala118=) rs1557044183
NM_005629.4(SLC6A8):c.370T>C (p.Trp124Arg)
NM_005629.4(SLC6A8):c.395G>T (p.Gly132Val) rs122453117
NM_005629.4(SLC6A8):c.407C>T (p.Ala136Val)
NM_005629.4(SLC6A8):c.462G>A (p.Trp154Ter)
NM_005629.4(SLC6A8):c.467_469del (p.Phe156del) rs2091455264
NM_005629.4(SLC6A8):c.48C>A (p.Asp16Glu) rs1057524586
NM_005629.4(SLC6A8):c.497del (p.Thr166fs)
NM_005629.4(SLC6A8):c.507G>A (p.Trp169Ter)
NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs) rs1557043770
NM_005629.4(SLC6A8):c.541T>C (p.Cys181Arg)
NM_005629.4(SLC6A8):c.570_571del (p.Ala191fs) rs1557044442
NM_005629.4(SLC6A8):c.611_612delinsAC (p.Ala204Asp) rs1569539288
NM_005629.4(SLC6A8):c.617G>A (p.Arg206His)
NM_005629.4(SLC6A8):c.619C>T (p.Arg207Trp) rs1557044461
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs) rs1603215223
NM_005629.4(SLC6A8):c.634G>T (p.Glu212Ter)
NM_005629.4(SLC6A8):c.635_636del (p.Glu212fs)
NM_005629.4(SLC6A8):c.644+3_644+6del rs1064795351
NM_005629.4(SLC6A8):c.644+5G>A
NM_005629.4(SLC6A8):c.644+9G>A rs200353790
NM_005629.4(SLC6A8):c.645-19A>G rs2148361615
NM_005629.4(SLC6A8):c.676G>T (p.Glu226Ter)
NM_005629.4(SLC6A8):c.681G>A (p.Val227=) rs370508642
NM_005629.4(SLC6A8):c.748_749del (p.Val250fs) rs1557044569
NM_005629.4(SLC6A8):c.757G>C (p.Gly253Arg)
NM_005629.4(SLC6A8):c.778-2A>G
NM_005629.4(SLC6A8):c.778-8C>G rs781860529
NM_005629.4(SLC6A8):c.786C>G (p.Tyr262Ter)
NM_005629.4(SLC6A8):c.808G>A (p.Val270Met)
NM_005629.4(SLC6A8):c.856del (p.Leu286fs)
NM_005629.4(SLC6A8):c.859del (p.Asp287fs)
NM_005629.4(SLC6A8):c.874T>C (p.Tyr292His) rs2148362804
NM_005629.4(SLC6A8):c.878_879del (p.Leu293fs)
NM_005629.4(SLC6A8):c.880A>C (p.Lys294Gln)
NM_005629.4(SLC6A8):c.912G>A (p.Gln304=)
NM_005629.4(SLC6A8):c.912G>C (p.Gln304His) rs1064794836
NM_005629.4(SLC6A8):c.913-1G>A
NM_005629.4(SLC6A8):c.917G>A (p.Trp306Ter)
NM_005629.4(SLC6A8):c.92del (p.Pro31fs)
NM_005629.4(SLC6A8):c.942C>G (p.Phe314Leu)
NM_005629.4(SLC6A8):c.942_944del (p.Phe315del) rs2091467532
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs) rs1603216806
NM_005629.4(SLC6A8):c.946dup (p.Ser316fs) rs1569539358
NM_005629.4(SLC6A8):c.950dup (p.Tyr317Ter) rs1569539359
NM_005629.4(SLC6A8):c.952G>A (p.Ala318Thr)
NM_005629.4(SLC6A8):c.974_975del (p.Thr325fs) rs1060502808
NM_005629.4(SLC6A8):c.993C>G (p.Asn331Lys)

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