ClinVar Miner

List of variants in gene SLC6A8 reported as likely benign for Creatine transporter deficiency

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Gene type:
ClinVar version:
Total variants: 523
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HGVS dbSNP gnomAD frequency
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933 0.00248
NM_005629.4(SLC6A8):c.1496-8C>T rs376038235 0.00038
NM_005629.4(SLC6A8):c.1767+15C>T rs370331295 0.00029
NM_005629.4(SLC6A8):c.1767+16G>A rs781867197 0.00028
NM_005629.4(SLC6A8):c.1596+9T>G rs781828647 0.00020
NM_005629.4(SLC6A8):c.1281C>T (p.Thr427=) rs368950125 0.00013
NM_005629.4(SLC6A8):c.1533C>T (p.Ile511=) rs782114947 0.00011
NM_005629.4(SLC6A8):c.87G>C (p.Gly29=) rs782373793 0.00011
NM_005629.4(SLC6A8):c.1570T>A (p.Ser524Thr) rs782703394 0.00010
NM_005629.4(SLC6A8):c.1653C>T (p.Tyr551=) rs369715906 0.00010
NM_005629.4(SLC6A8):c.1452C>G (p.Leu484=) rs376421364 0.00009
NM_005629.4(SLC6A8):c.644+9G>C rs200353790 0.00009
NM_005629.4(SLC6A8):c.912+15G>A rs1456582785 0.00009
NM_005629.4(SLC6A8):c.1830C>T (p.Asp610=) rs1803330 0.00008
NM_005629.4(SLC6A8):c.387G>T (p.Leu129=) rs1448790929 0.00007
NM_005629.4(SLC6A8):c.1025T>C (p.Ile342Thr) rs781962672 0.00006
NM_005629.4(SLC6A8):c.1038C>T (p.Leu346=) rs369716393 0.00006
NM_005629.4(SLC6A8):c.1170G>A (p.Pro390=) rs782416756 0.00006
NM_005629.4(SLC6A8):c.126A>G (p.Thr42=) rs1557043825 0.00006
NM_005629.4(SLC6A8):c.1504C>T (p.Arg502Cys) rs782488606 0.00006
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.1146G>A (p.Pro382=) rs782627741 0.00004
NM_005629.4(SLC6A8):c.1245C>T (p.Leu415=) rs782030501 0.00004
NM_005629.4(SLC6A8):c.1714G>A (p.Val572Met) rs2872524 0.00004
NM_005629.4(SLC6A8):c.283G>A (p.Val95Ile) rs782040427 0.00004
NM_005629.4(SLC6A8):c.927G>A (p.Ala309=) rs781807737 0.00004
NM_005629.4(SLC6A8):c.1021G>A (p.Ala341Thr) rs782741852 0.00003
NM_005629.4(SLC6A8):c.1161C>T (p.Ile387=) rs782582952 0.00003
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val) rs782551106 0.00003
NM_005629.4(SLC6A8):c.180C>T (p.Asp60=) rs781939862 0.00003
NM_005629.4(SLC6A8):c.1869C>T (p.Ser623=) rs782748657 0.00003
NM_005629.4(SLC6A8):c.1870G>A (p.Glu624Lys) rs368555229 0.00003
NM_005629.4(SLC6A8):c.234C>T (p.Phe78=) rs1229187797 0.00003
NM_005629.4(SLC6A8):c.409T>G (p.Ser137Ala) rs782360920 0.00003
NM_005629.4(SLC6A8):c.1242T>C (p.Gly414=) rs1458755240 0.00002
NM_005629.4(SLC6A8):c.1254+10G>A rs1478635455 0.00002
NM_005629.4(SLC6A8):c.1284C>T (p.Gly428=) rs781788160 0.00002
NM_005629.4(SLC6A8):c.1393-11C>T rs1341948115 0.00002
NM_005629.4(SLC6A8):c.1414C>T (p.Leu472=) rs781974297 0.00002
NM_005629.4(SLC6A8):c.144C>T (p.Ala48=) rs782232933 0.00002
NM_005629.4(SLC6A8):c.1515C>T (p.Asp505=) rs151335200 0.00002
NM_005629.4(SLC6A8):c.1597-18C>T rs781842035 0.00002
NM_005629.4(SLC6A8):c.1614C>T (p.Asn538=) rs369726574 0.00002
NM_005629.4(SLC6A8):c.1683C>A (p.Gly561=) rs1286428662 0.00002
NM_005629.4(SLC6A8):c.1698G>C (p.Leu566=) rs782287646 0.00002
NM_005629.4(SLC6A8):c.1710G>A (p.Leu570=) rs782662808 0.00002
NM_005629.4(SLC6A8):c.1731G>A (p.Leu577=) rs1603217844 0.00002
NM_005629.4(SLC6A8):c.1743C>T (p.Leu581=) rs782036265 0.00002
NM_005629.4(SLC6A8):c.1768-9C>G rs782234529 0.00002
NM_005629.4(SLC6A8):c.1831G>A (p.Ala611Thr) rs146949376 0.00002
NM_005629.4(SLC6A8):c.263-19G>A rs202034702 0.00002
NM_005629.4(SLC6A8):c.286C>T (p.Leu96=) rs141438791 0.00002
NM_005629.4(SLC6A8):c.639C>T (p.Phe213=) rs1057523082 0.00002
NM_005629.4(SLC6A8):c.644+8C>T rs782433720 0.00002
NM_005629.4(SLC6A8):c.747T>C (p.Cys249=) rs782688272 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.90C>T (p.Ala30=) rs1557043794 0.00002
NM_005629.4(SLC6A8):c.1008C>T (p.Asn336=) rs782239150 0.00001
NM_005629.4(SLC6A8):c.1016+13G>A rs782016796 0.00001
NM_005629.4(SLC6A8):c.1017-10C>T rs1557045124 0.00001
NM_005629.4(SLC6A8):c.1030C>T (p.Leu344=) rs1295886890 0.00001
NM_005629.4(SLC6A8):c.1053C>G (p.Thr351=) rs1557045138 0.00001
NM_005629.4(SLC6A8):c.1089G>A (p.Leu363=) rs1557045154 0.00001
NM_005629.4(SLC6A8):c.1127A>G (p.Lys376Arg) rs1557045159 0.00001
NM_005629.4(SLC6A8):c.1143G>A (p.Gly381=) rs782514670 0.00001
NM_005629.4(SLC6A8):c.1164C>A (p.Ala388=) rs1394306160 0.00001
NM_005629.4(SLC6A8):c.1197C>T (p.Ala399=) rs1557045289 0.00001
NM_005629.4(SLC6A8):c.1290C>T (p.Leu430=) rs782667574 0.00001
NM_005629.4(SLC6A8):c.1315T>G (p.Phe439Val) rs782206415 0.00001
NM_005629.4(SLC6A8):c.1318C>T (p.Arg440Cys) rs782326194 0.00001
NM_005629.4(SLC6A8):c.1344C>A (p.Ala448=) rs781971678 0.00001
NM_005629.4(SLC6A8):c.136C>T (p.Arg46Cys) rs1557043834 0.00001
NM_005629.4(SLC6A8):c.1371C>T (p.Ile457=) rs3179358 0.00001
NM_005629.4(SLC6A8):c.1393-5C>G rs782213020 0.00001
NM_005629.4(SLC6A8):c.1407C>T (p.Val469=) rs782779876 0.00001
NM_005629.4(SLC6A8):c.1431G>A (p.Ser477=) rs1060453 0.00001
NM_005629.4(SLC6A8):c.1483G>A (p.Ala495Thr) rs1557045503 0.00001
NM_005629.4(SLC6A8):c.1495+19C>T rs1284437374 0.00001
NM_005629.4(SLC6A8):c.1496-10C>T rs1557045522 0.00001
NM_005629.4(SLC6A8):c.1496-20C>T rs1557045519 0.00001
NM_005629.4(SLC6A8):c.1505G>A (p.Arg502His) rs1453689278 0.00001
NM_005629.4(SLC6A8):c.1512G>T (p.Met504Ile) rs782325571 0.00001
NM_005629.4(SLC6A8):c.1542A>G (p.Arg514=) rs1557045561 0.00001
NM_005629.4(SLC6A8):c.1575C>T (p.Phe525=) rs2091477642 0.00001
NM_005629.4(SLC6A8):c.1596+10G>A rs1557045600 0.00001
NM_005629.4(SLC6A8):c.1596+8C>T rs782769501 0.00001
NM_005629.4(SLC6A8):c.1597-14A>G rs1557045640 0.00001
NM_005629.4(SLC6A8):c.1597-4G>A rs1312663828 0.00001
NM_005629.4(SLC6A8):c.1602C>G (p.Ile534Met) rs782582776 0.00001
NM_005629.4(SLC6A8):c.1605C>T (p.Phe535=) rs782183518 0.00001
NM_005629.4(SLC6A8):c.1650C>G (p.Thr550=) rs781811330 0.00001
NM_005629.4(SLC6A8):c.1719G>A (p.Pro573=) rs2314070 0.00001
NM_005629.4(SLC6A8):c.1767+17G>T rs372958689 0.00001
NM_005629.4(SLC6A8):c.1767+9C>A rs782076464 0.00001
NM_005629.4(SLC6A8):c.1768-10T>C rs1459295373 0.00001
NM_005629.4(SLC6A8):c.1768-16T>C rs370937021 0.00001
NM_005629.4(SLC6A8):c.1791C>T (p.Pro597=) rs782481058 0.00001
NM_005629.4(SLC6A8):c.1848G>A (p.Leu616=) rs1173097153 0.00001
NM_005629.4(SLC6A8):c.1907G>A (p.Ter636=) rs1557045889 0.00001
NM_005629.4(SLC6A8):c.201C>T (p.Gly67=) rs782020168 0.00001
NM_005629.4(SLC6A8):c.204C>T (p.Phe68=) rs782128137 0.00001
NM_005629.4(SLC6A8):c.231C>T (p.Arg77=) rs781820776 0.00001
NM_005629.4(SLC6A8):c.263-13C>T rs1557044161 0.00001
NM_005629.4(SLC6A8):c.263-9C>A rs1557044163 0.00001
NM_005629.4(SLC6A8):c.291C>T (p.Ile97=) rs1557044172 0.00001
NM_005629.4(SLC6A8):c.297G>A (p.Leu99=) rs782391316 0.00001
NM_005629.4(SLC6A8):c.333G>C (p.Ser111=) rs781916894 0.00001
NM_005629.4(SLC6A8):c.375C>T (p.Asn125=) rs1169070771 0.00001
NM_005629.4(SLC6A8):c.395-9C>T rs782540675 0.00001
NM_005629.4(SLC6A8):c.405C>T (p.Tyr135=) rs782249346 0.00001
NM_005629.4(SLC6A8):c.459C>T (p.Ala153=) rs782593568 0.00001
NM_005629.4(SLC6A8):c.486C>T (p.Ser162=) rs1414869177 0.00001
NM_005629.4(SLC6A8):c.522C>T (p.His174=) rs1557044433 0.00001
NM_005629.4(SLC6A8):c.543C>T (p.Cys181=) rs1221310274 0.00001
NM_005629.4(SLC6A8):c.54G>C (p.Lys18Asn) rs1261794545 0.00001
NM_005629.4(SLC6A8):c.552C>A (p.Ile184=) rs1557044439 0.00001
NM_005629.4(SLC6A8):c.557G>A (p.Arg186His) rs372601430 0.00001
NM_005629.4(SLC6A8):c.579C>T (p.Ala193=) rs782164730 0.00001
NM_005629.4(SLC6A8):c.627T>C (p.Pro209=) rs1057521539 0.00001
NM_005629.4(SLC6A8):c.682C>T (p.Pro228Ser) rs781848986 0.00001
NM_005629.4(SLC6A8):c.687G>A (p.Gly229=) rs1557044561 0.00001
NM_005629.4(SLC6A8):c.708C>T (p.Thr236=) rs782489930 0.00001
NM_005629.4(SLC6A8):c.709C>T (p.Leu237Phe) rs782587269 0.00001
NM_005629.4(SLC6A8):c.718C>T (p.Leu240=) rs2091458962 0.00001
NM_005629.4(SLC6A8):c.768C>T (p.Ser256=) rs1177686940 0.00001
NM_005629.4(SLC6A8):c.778-7C>T rs782613166 0.00001
NM_005629.4(SLC6A8):c.786C>T (p.Tyr262=) rs1557044940 0.00001
NM_005629.4(SLC6A8):c.823C>T (p.Leu275=) rs1557044951 0.00001
NM_005629.4(SLC6A8):c.913-13G>T rs1176497805 0.00001
NM_005629.4(SLC6A8):c.913-8T>C rs1557045039 0.00001
NM_005629.4(SLC6A8):c.951C>T (p.Tyr317=) rs371516458 0.00001
NM_005629.4(SLC6A8):c.960C>T (p.Gly320=) rs1603216822 0.00001
NM_005629.4(SLC6A8):c.99G>A (p.Lys33=) rs782436399 0.00001
NC_000023.11:g.153693174AGGTG[3]
NM_005629.4(SLC6A8):c.1016+10G>T rs371905179
NM_005629.4(SLC6A8):c.1016+12C>G
NM_005629.4(SLC6A8):c.1016+17_1016+24dup
NM_005629.4(SLC6A8):c.1016+19C>A
NM_005629.4(SLC6A8):c.1016+20C>T
NM_005629.4(SLC6A8):c.1016+8C>T rs2148363011
NM_005629.4(SLC6A8):c.1016+9C>A rs190690083
NM_005629.4(SLC6A8):c.1017-11C>T
NM_005629.4(SLC6A8):c.1017-15C>T
NM_005629.4(SLC6A8):c.1017-16C>G rs1353769217
NM_005629.4(SLC6A8):c.1017-19T>C
NM_005629.4(SLC6A8):c.1017-20C>T
NM_005629.4(SLC6A8):c.1017-4T>G
NM_005629.4(SLC6A8):c.1017-4del
NM_005629.4(SLC6A8):c.1017-5C>A
NM_005629.4(SLC6A8):c.1017-7C>T rs2148363139
NM_005629.4(SLC6A8):c.1023C>T (p.Ala341=) rs2148363164
NM_005629.4(SLC6A8):c.102C>T (p.Gly34=)
NM_005629.4(SLC6A8):c.1050G>C (p.Gly350=) rs1403430635
NM_005629.4(SLC6A8):c.1059C>T (p.Phe353=) rs2148363218
NM_005629.4(SLC6A8):c.1068C>G (p.Gly356=)
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=) rs1603216989
NM_005629.4(SLC6A8):c.1077C>G (p.Val359=)
NM_005629.4(SLC6A8):c.1077C>T (p.Val359=) rs782477560
NM_005629.4(SLC6A8):c.1083C>A (p.Ser361=) rs2148363234
NM_005629.4(SLC6A8):c.1083C>T (p.Ser361=)
NM_005629.4(SLC6A8):c.1086C>T (p.Ile362=)
NM_005629.4(SLC6A8):c.108C>A (p.Gly36=)
NM_005629.4(SLC6A8):c.1092C>G (p.Gly364=)
NM_005629.4(SLC6A8):c.111C>G (p.Pro37=)
NM_005629.4(SLC6A8):c.1122C>T (p.Ile374=) rs2148363253
NM_005629.4(SLC6A8):c.1125C>T (p.Ser375=) rs2148363257
NM_005629.4(SLC6A8):c.1134A>G (p.Ala378=)
NM_005629.4(SLC6A8):c.1141+12C>T
NM_005629.4(SLC6A8):c.1141+15_1141+16dup rs2148363278
NM_005629.4(SLC6A8):c.1141+19C>T
NM_005629.4(SLC6A8):c.1142-12C>T
NM_005629.4(SLC6A8):c.1142-15_1142-14dup
NM_005629.4(SLC6A8):c.1142-5C>A rs1557045247
NM_005629.4(SLC6A8):c.1142-5C>G
NM_005629.4(SLC6A8):c.1142-6C>A
NM_005629.4(SLC6A8):c.1142-8T>A rs2148363608
NM_005629.4(SLC6A8):c.1143G>C (p.Gly381=) rs782514670
NM_005629.4(SLC6A8):c.1146G>C (p.Pro382=)
NM_005629.4(SLC6A8):c.1167C>T (p.Tyr389=) rs2148363659
NM_005629.4(SLC6A8):c.1170G>C (p.Pro390=) rs782416756
NM_005629.4(SLC6A8):c.1173G>A (p.Arg391=)
NM_005629.4(SLC6A8):c.1182G>A (p.Thr394=)
NM_005629.4(SLC6A8):c.1182G>T (p.Thr394=) rs782266040
NM_005629.4(SLC6A8):c.1183C>T (p.Leu395=) rs1557045279
NM_005629.4(SLC6A8):c.1194G>A (p.Val398=)
NM_005629.4(SLC6A8):c.1203C>T (p.Leu401=)
NM_005629.4(SLC6A8):c.1215G>A (p.Leu405=)
NM_005629.4(SLC6A8):c.1218C>T (p.Phe406=) rs1557045310
NM_005629.4(SLC6A8):c.1228C>T (p.Leu410=)
NM_005629.4(SLC6A8):c.1230G>A (p.Leu410=) rs1295612892
NM_005629.4(SLC6A8):c.123G>A (p.Gly41=)
NM_005629.4(SLC6A8):c.1245C>G (p.Leu415=) rs782030501
NM_005629.4(SLC6A8):c.1248C>T (p.Asp416=)
NM_005629.4(SLC6A8):c.1254+11G>A
NM_005629.4(SLC6A8):c.1254+12G>A
NM_005629.4(SLC6A8):c.1254+16T>C
NM_005629.4(SLC6A8):c.1254+17G>C
NM_005629.4(SLC6A8):c.1254+19G>C
NM_005629.4(SLC6A8):c.1254+7A>G rs2148363788
NM_005629.4(SLC6A8):c.1255-10C>G
NM_005629.4(SLC6A8):c.1255-10C>T
NM_005629.4(SLC6A8):c.1255-14dup
NM_005629.4(SLC6A8):c.1255-18G>A
NM_005629.4(SLC6A8):c.1255-7G>C rs2148363924
NM_005629.4(SLC6A8):c.1263T>C (p.Gly421=)
NM_005629.4(SLC6A8):c.1269G>A (p.Glu423=)
NM_005629.4(SLC6A8):c.126A>T (p.Thr42=) rs1557043825
NM_005629.4(SLC6A8):c.1278C>T (p.Ile426=) rs2148363948
NM_005629.4(SLC6A8):c.1299C>T (p.Leu433=)
NM_005629.4(SLC6A8):c.129C>A (p.Pro43=) rs782267694
NM_005629.4(SLC6A8):c.12G>A (p.Lys4=) rs1486125548
NM_005629.4(SLC6A8):c.1305C>A (p.Ala435=)
NM_005629.4(SLC6A8):c.1305C>T (p.Ala435=)
NM_005629.4(SLC6A8):c.1314C>T (p.Tyr438=)
NM_005629.4(SLC6A8):c.132C>A (p.Gly44=) rs2148358531
NM_005629.4(SLC6A8):c.1335C>A (p.Ile445=) rs2148364036
NM_005629.4(SLC6A8):c.1344C>T (p.Ala448=) rs781971678
NM_005629.4(SLC6A8):c.1356C>T (p.Ala452=) rs2148364050
NM_005629.4(SLC6A8):c.1359C>G (p.Leu453=) rs2148364052
NM_005629.4(SLC6A8):c.1392+10G>A
NM_005629.4(SLC6A8):c.1392+10G>T
NM_005629.4(SLC6A8):c.1392+12G>A
NM_005629.4(SLC6A8):c.1392+13G>T
NM_005629.4(SLC6A8):c.1392+14G>A
NM_005629.4(SLC6A8):c.1392+15G>A rs1238949410
NM_005629.4(SLC6A8):c.1392+15G>C
NM_005629.4(SLC6A8):c.1392+17G>T
NM_005629.4(SLC6A8):c.1392+17dup rs781964988
NM_005629.4(SLC6A8):c.1392+18T>A
NM_005629.4(SLC6A8):c.1392+19C>T
NM_005629.4(SLC6A8):c.1392+7G>C rs1557045427
NM_005629.4(SLC6A8):c.1393-10T>C rs2148364134
NM_005629.4(SLC6A8):c.1393-11C>G
NM_005629.4(SLC6A8):c.1393-13C>G
NM_005629.4(SLC6A8):c.1393-14G>A
NM_005629.4(SLC6A8):c.1393-18C>G
NM_005629.4(SLC6A8):c.1393-18C>T
NM_005629.4(SLC6A8):c.1393-4C>G
NM_005629.4(SLC6A8):c.1393-4C>T rs1557045462
NM_005629.4(SLC6A8):c.1393-5C>T rs782213020
NM_005629.4(SLC6A8):c.1393-7C>A rs373525249
NM_005629.4(SLC6A8):c.1393-7C>T rs373525249
NM_005629.4(SLC6A8):c.1393-8T>G rs1557045456
NM_005629.4(SLC6A8):c.1395C>A (p.Gly465=)
NM_005629.4(SLC6A8):c.1410C>T (p.Phe470=) rs2148364172
NM_005629.4(SLC6A8):c.1416G>A (p.Leu472=) rs1557045478
NM_005629.4(SLC6A8):c.1416G>C (p.Leu472=) rs1557045478
NM_005629.4(SLC6A8):c.1425C>T (p.Tyr475=) rs2091475721
NM_005629.4(SLC6A8):c.1434C>T (p.Ala478=)
NM_005629.4(SLC6A8):c.1443C>G (p.Thr481=)
NM_005629.4(SLC6A8):c.1446C>G (p.Thr482=) rs2148364242
NM_005629.4(SLC6A8):c.144C>G (p.Ala48=) rs782232933
NM_005629.4(SLC6A8):c.1452C>T (p.Leu484=) rs376421364
NM_005629.4(SLC6A8):c.1467G>C (p.Trp489Cys)
NM_005629.4(SLC6A8):c.1470G>A (p.Glu490=)
NM_005629.4(SLC6A8):c.147G>T (p.Val49=) rs1275670151
NM_005629.4(SLC6A8):c.1482G>A (p.Val494=)
NM_005629.4(SLC6A8):c.1482G>C (p.Val494=)
NM_005629.4(SLC6A8):c.1485C>T (p.Ala495=)
NM_005629.4(SLC6A8):c.1491G>A (p.Val497=)
NM_005629.4(SLC6A8):c.1495+14dup
NM_005629.4(SLC6A8):c.1495+16G>C
NM_005629.4(SLC6A8):c.1495+16GGGCT[3]
NM_005629.4(SLC6A8):c.1495+7C>T rs1603217530
NM_005629.4(SLC6A8):c.1495+8A>G rs1057523669
NM_005629.4(SLC6A8):c.1496-10C>G
NM_005629.4(SLC6A8):c.1496-11C>T
NM_005629.4(SLC6A8):c.1496-20C>G
NM_005629.4(SLC6A8):c.1496-7G>C rs781814962
NM_005629.4(SLC6A8):c.1500T>C (p.Ala500=) rs2148364402
NM_005629.4(SLC6A8):c.150G>T (p.Pro50=)
NM_005629.4(SLC6A8):c.1518C>T (p.Asp506=) rs1603217612
NM_005629.4(SLC6A8):c.1539C>T (p.Tyr513=)
NM_005629.4(SLC6A8):c.153G>A (p.Pro51=) rs782351119
NM_005629.4(SLC6A8):c.153G>C (p.Pro51=) rs782351119
NM_005629.4(SLC6A8):c.1545T>C (p.Pro515=)
NM_005629.4(SLC6A8):c.1548C>T (p.Cys516=)
NM_005629.4(SLC6A8):c.1551C>G (p.Pro517=)
NM_005629.4(SLC6A8):c.1585C>T (p.Leu529=) rs2148364519
NM_005629.4(SLC6A8):c.1587G>A (p.Leu529=)
NM_005629.4(SLC6A8):c.1590C>T (p.Val530=)
NM_005629.4(SLC6A8):c.1596+11G>C
NM_005629.4(SLC6A8):c.1596+15_1596+27del
NM_005629.4(SLC6A8):c.1596+19G>A rs2148364555
NM_005629.4(SLC6A8):c.1596+20G>A
NM_005629.4(SLC6A8):c.1596+7G>A
NM_005629.4(SLC6A8):c.1596+9T>C
NM_005629.4(SLC6A8):c.1597-11C>G
NM_005629.4(SLC6A8):c.1597-12del
NM_005629.4(SLC6A8):c.1597-17A>G
NM_005629.4(SLC6A8):c.1597-20C>G rs781894858
NM_005629.4(SLC6A8):c.1597-4G>C
NM_005629.4(SLC6A8):c.1597-6C>G
NM_005629.4(SLC6A8):c.1597-6C>T rs2091478800
NM_005629.4(SLC6A8):c.1597-8G>C rs2148364655
NM_005629.4(SLC6A8):c.1602C>T (p.Ile534=) rs782582776
NM_005629.4(SLC6A8):c.1611C>T (p.Phe537=)
NM_005629.4(SLC6A8):c.1632G>C (p.Pro544=) rs782393373
NM_005629.4(SLC6A8):c.1638C>G (p.Val546=)
NM_005629.4(SLC6A8):c.1644C>T (p.Asn548=)
NM_005629.4(SLC6A8):c.1659C>T (p.Tyr553=) rs1569539466
NM_005629.4(SLC6A8):c.1677C>T (p.Ala559=) rs1057522460
NM_005629.4(SLC6A8):c.1683C>G (p.Gly561=)
NM_005629.4(SLC6A8):c.1689C>G (p.Ala563=) rs2148364772
NM_005629.4(SLC6A8):c.1695C>G (p.Ala565=)
NM_005629.4(SLC6A8):c.1695C>T (p.Ala565=)
NM_005629.4(SLC6A8):c.1698G>T (p.Leu566=)
NM_005629.4(SLC6A8):c.1704C>T (p.Ser568=) rs2148364807
NM_005629.4(SLC6A8):c.1708C>T (p.Leu570=) rs1379981266
NM_005629.4(SLC6A8):c.1716G>A (p.Val572=)
NM_005629.4(SLC6A8):c.1725C>T (p.His575=) rs2148364840
NM_005629.4(SLC6A8):c.1729C>T (p.Leu577=)
NM_005629.4(SLC6A8):c.1734C>T (p.Gly578=)
NM_005629.4(SLC6A8):c.1737C>T (p.Cys579=)
NM_005629.4(SLC6A8):c.174G>A (p.Gln58=) rs1557043848
NM_005629.4(SLC6A8):c.1752G>A (p.Lys584=)
NM_005629.4(SLC6A8):c.1755C>T (p.Gly585=)
NM_005629.4(SLC6A8):c.1758C>T (p.Thr586=) rs2148364882
NM_005629.4(SLC6A8):c.1767+10C>A rs2148364923
NM_005629.4(SLC6A8):c.1767+10C>T rs2148364923
NM_005629.4(SLC6A8):c.1767+11C>A rs782709232
NM_005629.4(SLC6A8):c.1767+12G>A
NM_005629.4(SLC6A8):c.1767+12GCCCG[3]
NM_005629.4(SLC6A8):c.1767+13C>T
NM_005629.4(SLC6A8):c.1767+15C>A
NM_005629.4(SLC6A8):c.1767+15C>G
NM_005629.4(SLC6A8):c.1767+16_1767+24dup
NM_005629.4(SLC6A8):c.1767+16_1767+33del rs781868894
NM_005629.4(SLC6A8):c.1767+18C>T
NM_005629.4(SLC6A8):c.1767+19C>T
NM_005629.4(SLC6A8):c.1767+20C>A
NM_005629.4(SLC6A8):c.1767+20C>T rs782612504
NM_005629.4(SLC6A8):c.1767+21_1767+29dup
NM_005629.4(SLC6A8):c.1767+7C>G
NM_005629.4(SLC6A8):c.1767+8T>C
NM_005629.4(SLC6A8):c.1768-11C>G
NM_005629.4(SLC6A8):c.1768-11C>T rs2148365187
NM_005629.4(SLC6A8):c.1768-11CT[3] rs782682148
NM_005629.4(SLC6A8):c.1768-11_1768-9del
NM_005629.4(SLC6A8):c.1768-13T>C
NM_005629.4(SLC6A8):c.1768-14C>G rs2148365184
NM_005629.4(SLC6A8):c.1768-14C>T
NM_005629.4(SLC6A8):c.1768-15C>T
NM_005629.4(SLC6A8):c.1768-7C>T
NM_005629.4(SLC6A8):c.1768-8_1768-7del rs782682148
NM_005629.4(SLC6A8):c.1770C>T (p.Arg590=) rs2091482104
NM_005629.4(SLC6A8):c.1785C>G (p.Thr595=) rs1557045822
NM_005629.4(SLC6A8):c.1794C>A (p.Ile598=)
NM_005629.4(SLC6A8):c.1809C>T (p.His603=)
NM_005629.4(SLC6A8):c.1833A>C (p.Ala611=) rs1557045848
NM_005629.4(SLC6A8):c.1833A>G (p.Ala611=) rs1557045848
NM_005629.4(SLC6A8):c.1839C>T (p.Val613=) rs2148365291
NM_005629.4(SLC6A8):c.183C>T (p.Phe61=) rs2148358572
NM_005629.4(SLC6A8):c.1842G>A (p.Arg614=)
NM_005629.4(SLC6A8):c.1854C>A (p.Thr618=)
NM_005629.4(SLC6A8):c.1854C>T (p.Thr618=) rs2091482761
NM_005629.4(SLC6A8):c.1855C>T (p.Leu619=) rs1434101271
NM_005629.4(SLC6A8):c.1857G>C (p.Leu619=)
NM_005629.4(SLC6A8):c.1860C>T (p.Thr620=) rs1557045857
NM_005629.4(SLC6A8):c.1863A>C (p.Pro621=)
NM_005629.4(SLC6A8):c.1864G>C (p.Val622Leu) rs1160275875
NM_005629.4(SLC6A8):c.186C>T (p.Ile62=) rs2148358582
NM_005629.4(SLC6A8):c.1887C>T (p.Val629=) rs1485660118
NM_005629.4(SLC6A8):c.1899T>C (p.Ser633=) rs2091483278
NM_005629.4(SLC6A8):c.18C>G (p.Ala6=) rs1557043736
NM_005629.4(SLC6A8):c.18C>T (p.Ala6=)
NM_005629.4(SLC6A8):c.1902C>A (p.Val634=) rs2148365403
NM_005629.4(SLC6A8):c.1902C>G (p.Val634=)
NM_005629.4(SLC6A8):c.192G>C (p.Ser64=)
NM_005629.4(SLC6A8):c.192G>T (p.Ser64=)
NM_005629.4(SLC6A8):c.198G>C (p.Val66=)
NM_005629.4(SLC6A8):c.207C>T (p.Ala69=)
NM_005629.4(SLC6A8):c.214T>C (p.Leu72=) rs1603213021
NM_005629.4(SLC6A8):c.219C>T (p.Gly73=)
NM_005629.4(SLC6A8):c.225G>T (p.Val75=) rs2148358619
NM_005629.4(SLC6A8):c.237C>G (p.Pro79=) rs2148358626
NM_005629.4(SLC6A8):c.240C>T (p.Tyr80=) rs2148358628
NM_005629.4(SLC6A8):c.258C>T (p.Gly86=)
NM_005629.4(SLC6A8):c.262+10C>T
NM_005629.4(SLC6A8):c.262+11C>T
NM_005629.4(SLC6A8):c.262+12C>T
NM_005629.4(SLC6A8):c.262+16C>T
NM_005629.4(SLC6A8):c.262+17G>C
NM_005629.4(SLC6A8):c.262+19C>T
NM_005629.4(SLC6A8):c.262+8C>T
NM_005629.4(SLC6A8):c.263-10C>T
NM_005629.4(SLC6A8):c.263-11T>C
NM_005629.4(SLC6A8):c.263-12C>T
NM_005629.4(SLC6A8):c.263-16G>A rs1557044160
NM_005629.4(SLC6A8):c.263-18C>T
NM_005629.4(SLC6A8):c.263-20C>T
NM_005629.4(SLC6A8):c.263-6C>T rs2148360091
NM_005629.4(SLC6A8):c.263-7C>T rs2148360085
NM_005629.4(SLC6A8):c.263-9C>T rs1557044163
NM_005629.4(SLC6A8):c.273T>C (p.Leu91=)
NM_005629.4(SLC6A8):c.276T>A (p.Ile92=)
NM_005629.4(SLC6A8):c.288G>A (p.Leu96=) rs2091448699
NM_005629.4(SLC6A8):c.294C>T (p.Ala98=) rs2148360122
NM_005629.4(SLC6A8):c.30C>T (p.Ile10=) rs1057522627
NM_005629.4(SLC6A8):c.315T>C (p.Ile105=) rs2148360127
NM_005629.4(SLC6A8):c.324A>G (p.Leu108=)
NM_005629.4(SLC6A8):c.333G>A (p.Ser111=) rs781916894
NM_005629.4(SLC6A8):c.333G>T (p.Ser111=)
NM_005629.4(SLC6A8):c.334C>T (p.Leu112=)
NM_005629.4(SLC6A8):c.336G>A (p.Leu112=)
NM_005629.4(SLC6A8):c.354C>G (p.Ala118=) rs1557044183
NM_005629.4(SLC6A8):c.354C>T (p.Ala118=) rs1557044183
NM_005629.4(SLC6A8):c.366T>C (p.Asn122=)
NM_005629.4(SLC6A8):c.390C>T (p.Phe130=) rs2148360178
NM_005629.4(SLC6A8):c.394+10C>T rs2148360189
NM_005629.4(SLC6A8):c.394+11dup rs782774761
NM_005629.4(SLC6A8):c.394+17C>G
NM_005629.4(SLC6A8):c.394+22_394+42del rs2091449313
NM_005629.4(SLC6A8):c.395-13T>C
NM_005629.4(SLC6A8):c.395-7G>A rs2148360949
NM_005629.4(SLC6A8):c.397C>G (p.Leu133Val)
NM_005629.4(SLC6A8):c.39G>A (p.Val13=) rs2148358354
NM_005629.4(SLC6A8):c.420C>T (p.Ile140=) rs2091455049
NM_005629.4(SLC6A8):c.429C>T (p.Tyr143=) rs2148360995
NM_005629.4(SLC6A8):c.42C>T (p.Ser14=) rs1060504719
NM_005629.4(SLC6A8):c.444C>T (p.Tyr148=)
NM_005629.4(SLC6A8):c.447C>T (p.Ile149=) rs1177945832
NM_005629.4(SLC6A8):c.454C>T (p.Leu152=) rs1603215008
NM_005629.4(SLC6A8):c.468C>T (p.Phe156=)
NM_005629.4(SLC6A8):c.471T>C (p.Tyr157=) rs1057521561
NM_005629.4(SLC6A8):c.486C>G (p.Ser162=) rs1414869177
NM_005629.4(SLC6A8):c.48C>T (p.Asp16=) rs1057524586
NM_005629.4(SLC6A8):c.492C>G (p.Thr164=) rs1430194297
NM_005629.4(SLC6A8):c.501G>A (p.Leu167=)
NM_005629.4(SLC6A8):c.510C>T (p.Ala170=) rs2148361041
NM_005629.4(SLC6A8):c.513A>G (p.Thr171=)
NM_005629.4(SLC6A8):c.516T>C (p.Cys172=) rs1480583650
NM_005629.4(SLC6A8):c.531C>T (p.Asn177=)
NM_005629.4(SLC6A8):c.537C>G (p.Pro179=)
NM_005629.4(SLC6A8):c.546G>A (p.Val182=)
NM_005629.4(SLC6A8):c.54G>A (p.Lys18=) rs1261794545
NM_005629.4(SLC6A8):c.564A>G (p.Glu188=)
NM_005629.4(SLC6A8):c.573C>G (p.Ala191=)
NM_005629.4(SLC6A8):c.576T>C (p.Asn192=)
NM_005629.4(SLC6A8):c.585G>C (p.Leu195=)
NM_005629.4(SLC6A8):c.600T>C (p.Cys200=) rs2148361124
NM_005629.4(SLC6A8):c.606G>A (p.Gln202=) rs2148361132
NM_005629.4(SLC6A8):c.60C>G (p.Gly20=)
NM_005629.4(SLC6A8):c.60C>T (p.Gly20=)
NM_005629.4(SLC6A8):c.611_612delinsAC (p.Ala204Asp) rs1569539288
NM_005629.4(SLC6A8):c.612T>C (p.Ala204=)
NM_005629.4(SLC6A8):c.615C>T (p.Asp205=) rs1603215203
NM_005629.4(SLC6A8):c.618C>T (p.Arg206=) rs2091456011
NM_005629.4(SLC6A8):c.627T>G (p.Pro209=) rs1057521539
NM_005629.4(SLC6A8):c.644+10G>T rs2148361214
NM_005629.4(SLC6A8):c.644+12A>T
NM_005629.4(SLC6A8):c.644+14C>G rs782270185
NM_005629.4(SLC6A8):c.644+14C>T
NM_005629.4(SLC6A8):c.644+16C>G
NM_005629.4(SLC6A8):c.644+8C>A rs782433720
NM_005629.4(SLC6A8):c.644+9G>A rs200353790
NM_005629.4(SLC6A8):c.645-12T>A
NM_005629.4(SLC6A8):c.645-18CCTC[4]
NM_005629.4(SLC6A8):c.645-19A>G rs2148361615
NM_005629.4(SLC6A8):c.645-4C>T rs2148361633
NM_005629.4(SLC6A8):c.645-6C>A
NM_005629.4(SLC6A8):c.645-6C>G rs377181706
NM_005629.4(SLC6A8):c.654C>G (p.Val218=)
NM_005629.4(SLC6A8):c.655T>C (p.Leu219=)
NM_005629.4(SLC6A8):c.661C>T (p.Leu221=)
NM_005629.4(SLC6A8):c.66C>T (p.Leu22=) rs2148358395
NM_005629.4(SLC6A8):c.672A>G (p.Gly224=) rs1569539299
NM_005629.4(SLC6A8):c.681G>A (p.Val227=) rs370508642
NM_005629.4(SLC6A8):c.687G>T (p.Gly229=)
NM_005629.4(SLC6A8):c.6G>A (p.Ala2=)
NM_005629.4(SLC6A8):c.702G>A (p.Glu234=)
NM_005629.4(SLC6A8):c.711T>G (p.Leu237=)
NM_005629.4(SLC6A8):c.715C>T (p.Leu239=)
NM_005629.4(SLC6A8):c.72G>T (p.Ala24=) rs1295513059
NM_005629.4(SLC6A8):c.759G>T (p.Gly253=) rs2148361726
NM_005629.4(SLC6A8):c.75C>G (p.Pro25=) rs1603212933
NM_005629.4(SLC6A8):c.777+7C>G
NM_005629.4(SLC6A8):c.777+8T>C
NM_005629.4(SLC6A8):c.777+9_777+16dup rs782370799
NM_005629.4(SLC6A8):c.778-11T>C
NM_005629.4(SLC6A8):c.778-14G>T
NM_005629.4(SLC6A8):c.778-14del
NM_005629.4(SLC6A8):c.778-4C>G rs2091465775
NM_005629.4(SLC6A8):c.778-8C>T rs781860529
NM_005629.4(SLC6A8):c.783G>A (p.Val261=)
NM_005629.4(SLC6A8):c.783G>C (p.Val261=) rs561103166
NM_005629.4(SLC6A8):c.792T>C (p.Thr264=) rs1224242554
NM_005629.4(SLC6A8):c.798A>G (p.Thr266=) rs2148362721
NM_005629.4(SLC6A8):c.798A>T (p.Thr266=) rs2148362721
NM_005629.4(SLC6A8):c.801C>T (p.Phe267=) rs2148362725
NM_005629.4(SLC6A8):c.825G>A (p.Leu275=)
NM_005629.4(SLC6A8):c.837A>C (p.Gly279=)
NM_005629.4(SLC6A8):c.838G>T (p.Val280Leu)
NM_005629.4(SLC6A8):c.840G>T (p.Val280=)
NM_005629.4(SLC6A8):c.84C>T (p.Asp28=) rs2148358417
NM_005629.4(SLC6A8):c.852C>A (p.Gly284=)
NM_005629.4(SLC6A8):c.856C>G (p.Leu286Val) rs782005985
NM_005629.4(SLC6A8):c.894A>G (p.Ser298=)
NM_005629.4(SLC6A8):c.903G>A (p.Gly301=) rs2091466505
NM_005629.4(SLC6A8):c.903G>T (p.Gly301=) rs2091466505
NM_005629.4(SLC6A8):c.912+19G>C
NM_005629.4(SLC6A8):c.912+3GAGGTG[3] rs782675060
NM_005629.4(SLC6A8):c.912+9G>C rs782694291
NM_005629.4(SLC6A8):c.913-10C>G
NM_005629.4(SLC6A8):c.913-13G>A
NM_005629.4(SLC6A8):c.913-19C>A
NM_005629.4(SLC6A8):c.913-20G>A
NM_005629.4(SLC6A8):c.927G>C (p.Ala309=)
NM_005629.4(SLC6A8):c.930G>A (p.Gly310=) rs2148362930
NM_005629.4(SLC6A8):c.936G>A (p.Gln312=)
NM_005629.4(SLC6A8):c.939T>A (p.Ile313=)
NM_005629.4(SLC6A8):c.93G>A (p.Pro31=) rs782197450
NM_005629.4(SLC6A8):c.963G>C (p.Leu321=)
NM_005629.4(SLC6A8):c.96C>G (p.Ala32=)
NM_005629.4(SLC6A8):c.981G>A (p.Leu327=) rs1569539360
NM_005629.4(SLC6A8):c.984C>G (p.Gly328=) rs1276576915
NM_005629.4(SLC6A8):c.984C>T (p.Gly328=)
NM_005629.4(SLC6A8):c.990C>T (p.Tyr330=) rs1057523301
NM_005629.4(SLC6A8):c.9G>A (p.Lys3=) rs2148358311

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