ClinVar Miner

List of variants in gene SLC33A1 studied for Spastic paraplegia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 126
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004733.4(SLC33A1):c.964-1701T>A rs7636224 0.43634
NM_004733.4(SLC33A1):c.512A>G (p.Asp171Gly) rs3804769 0.07382
NM_004733.4(SLC33A1):c.327A>G (p.Gln109=) rs74578336 0.01921
NM_004733.4(SLC33A1):c.1482+7A>G rs149522913 0.00458
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173 0.00267
NM_004733.4(SLC33A1):c.169G>C (p.Gly57Arg) rs150651158 0.00213
NM_004733.4(SLC33A1):c.136G>A (p.Glu46Lys) rs149571533 0.00190
NM_004733.4(SLC33A1):c.1451A>C (p.Asn484Thr) rs144015992 0.00190
NM_004733.4(SLC33A1):c.288A>C (p.Pro96=) rs200885656 0.00035
NM_004733.4(SLC33A1):c.370C>T (p.Leu124Phe) rs141818342 0.00033
NM_004733.4(SLC33A1):c.400G>C (p.Val134Leu) rs148175458 0.00029
NM_004733.4(SLC33A1):c.177C>T (p.Gly59=) rs139129650 0.00026
NM_004733.4(SLC33A1):c.1498G>T (p.Gly500Cys) rs528636548 0.00025
NM_004733.4(SLC33A1):c.847G>A (p.Glu283Lys) rs200789237 0.00020
NM_004733.4(SLC33A1):c.1006G>A (p.Val336Ile) rs759509587 0.00018
NM_004733.4(SLC33A1):c.132C>T (p.Gly44=) rs144120239 0.00011
NM_004733.4(SLC33A1):c.750A>G (p.Gln250=) rs15594 0.00011
NM_004733.4(SLC33A1):c.879G>A (p.Gly293=) rs143409270 0.00011
NM_004733.4(SLC33A1):c.1505C>T (p.Ser502Leu) rs149578822 0.00010
NM_004733.4(SLC33A1):c.687T>C (p.Asn229=) rs146423648 0.00010
NM_004733.4(SLC33A1):c.1559T>C (p.Ile520Thr) rs777143987 0.00009
NM_004733.4(SLC33A1):c.267G>A (p.Leu89=) rs370658911 0.00009
NM_004733.4(SLC33A1):c.850G>A (p.Val284Ile) rs377484298 0.00007
NM_004733.4(SLC33A1):c.1579T>G (p.Phe527Val) rs200914930 0.00006
NM_004733.4(SLC33A1):c.1602G>A (p.Lys534=) rs757490105 0.00004
NM_004733.4(SLC33A1):c.1642A>G (p.Asn548Asp) rs767949889 0.00004
NM_004733.4(SLC33A1):c.968G>C (p.Gly323Ala) rs765678618 0.00003
NM_004733.4(SLC33A1):c.1149-4A>G rs773106675 0.00002
NM_004733.4(SLC33A1):c.1287T>C (p.Tyr429=) rs747300088 0.00002
NM_004733.4(SLC33A1):c.131G>T (p.Gly44Val) rs780400607 0.00002
NM_004733.4(SLC33A1):c.280A>T (p.Ser94Cys) rs780342840 0.00002
NM_004733.4(SLC33A1):c.540T>A (p.Thr180=) rs1020651893 0.00002
NM_004733.4(SLC33A1):c.763G>A (p.Val255Ile) rs1173522838 0.00002
NM_004733.4(SLC33A1):c.972T>C (p.Phe324=) rs139561128 0.00002
NM_004733.4(SLC33A1):c.1003T>G (p.Leu335Val) rs1248630150 0.00001
NM_004733.4(SLC33A1):c.1037C>T (p.Ala346Val) rs771681797 0.00001
NM_004733.4(SLC33A1):c.1148+7A>G rs773852747 0.00001
NM_004733.4(SLC33A1):c.1457A>G (p.Asn486Ser) rs745849692 0.00001
NM_004733.4(SLC33A1):c.201C>G (p.Ser67Arg) rs762010317 0.00001
NM_004733.4(SLC33A1):c.311T>C (p.Val104Ala) rs1028028437 0.00001
NM_004733.4(SLC33A1):c.393G>A (p.Ala131=) rs954053538 0.00001
NM_004733.4(SLC33A1):c.43C>T (p.Arg15Trp) rs745782500 0.00001
NM_004733.4(SLC33A1):c.537C>T (p.Leu179=) rs751374068 0.00001
NM_004733.4(SLC33A1):c.583A>G (p.Ile195Val) rs148999356 0.00001
NM_004733.4(SLC33A1):c.685A>G (p.Asn229Asp) rs755014645 0.00001
NM_004733.4(SLC33A1):c.797C>G (p.Thr266Ser) rs374979946 0.00001
NM_004733.4(SLC33A1):c.813A>G (p.Thr271=) rs1201903329 0.00001
NM_004733.4(SLC33A1):c.988G>A (p.Val330Ile) rs1449462090 0.00001
NC_000003.11:g.(?_155545999)_(155560428_?)dup
NC_000003.11:g.(?_155560201)_(155560428_?)del
NC_000003.11:g.(?_155570992)_(155571786_?)dup
NM_004733.4(SLC33A1):c.1036G>T (p.Ala346Ser)
NM_004733.4(SLC33A1):c.1042T>C (p.Leu348=)
NM_004733.4(SLC33A1):c.1063T>C (p.Leu355=)
NM_004733.4(SLC33A1):c.1075C>A (p.Leu359Met)
NM_004733.4(SLC33A1):c.1089C>A (p.Ile363=) rs780161061
NM_004733.4(SLC33A1):c.1131C>G (p.Tyr377Ter) rs2109312898
NM_004733.4(SLC33A1):c.1131C>T (p.Tyr377=)
NM_004733.4(SLC33A1):c.1161G>A (p.Gly387=) rs765123473
NM_004733.4(SLC33A1):c.1176A>T (p.Leu392=) rs1192897708
NM_004733.4(SLC33A1):c.1209A>G (p.Gln403=)
NM_004733.4(SLC33A1):c.1223T>C (p.Ile408Thr)
NM_004733.4(SLC33A1):c.1266+9G>C rs878854744
NM_004733.4(SLC33A1):c.1267-15T>C
NM_004733.4(SLC33A1):c.1268T>C (p.Val423Ala)
NM_004733.4(SLC33A1):c.1278C>T (p.Tyr426=)
NM_004733.4(SLC33A1):c.1284G>A (p.Met428Ile)
NM_004733.4(SLC33A1):c.1298T>C (p.Met433Thr)
NM_004733.4(SLC33A1):c.1300G>A (p.Ala434Thr) rs1252296385
NM_004733.4(SLC33A1):c.1315G>A (p.Val439Ile)
NM_004733.4(SLC33A1):c.1362C>T (p.Thr454=)
NM_004733.4(SLC33A1):c.1396G>C (p.Val466Leu) rs769973927
NM_004733.4(SLC33A1):c.1413A>G (p.Val471=) rs2109304787
NM_004733.4(SLC33A1):c.1420C>T (p.Leu474Phe)
NM_004733.4(SLC33A1):c.1425A>C (p.Thr475=) rs777226978
NM_004733.4(SLC33A1):c.1433_1434del (p.Glu478fs)
NM_004733.4(SLC33A1):c.1438G>A (p.Val480Ile) rs747418232
NM_004733.4(SLC33A1):c.1511_1521del (p.Val504fs) rs772861569
NM_004733.4(SLC33A1):c.1530T>C (p.Tyr510=) rs1752271816
NM_004733.4(SLC33A1):c.1535T>C (p.Val512Ala) rs2109302362
NM_004733.4(SLC33A1):c.154C>G (p.Leu52Val) rs756790835
NM_004733.4(SLC33A1):c.1559T>G (p.Ile520Ser) rs777143987
NM_004733.4(SLC33A1):c.1560T>C (p.Ile520=)
NM_004733.4(SLC33A1):c.1569T>C (p.Gly523=) rs150442784
NM_004733.4(SLC33A1):c.1587T>A (p.Gly529=)
NM_004733.4(SLC33A1):c.1596T>C (p.Phe532=) rs2109302264
NM_004733.4(SLC33A1):c.1599A>G (p.Lys533=)
NM_004733.4(SLC33A1):c.1615G>T (p.Gly539Ter)
NM_004733.4(SLC33A1):c.162G>A (p.Gly54=)
NM_004733.4(SLC33A1):c.1646A>G (p.Asn549Ser) rs1752264956
NM_004733.4(SLC33A1):c.190G>A (p.Ala64Thr) rs1332360610
NM_004733.4(SLC33A1):c.194C>G (p.Pro65Arg) rs1753513411
NM_004733.4(SLC33A1):c.213A>C (p.Glu71Asp)
NM_004733.4(SLC33A1):c.231A>C (p.Leu77=)
NM_004733.4(SLC33A1):c.265C>T (p.Leu89=)
NM_004733.4(SLC33A1):c.27C>T (p.Asp9=)
NM_004733.4(SLC33A1):c.319A>G (p.Thr107Ala)
NM_004733.4(SLC33A1):c.381G>A (p.Pro127=)
NM_004733.4(SLC33A1):c.3G>A (p.Met1Ile) rs2108019676
NM_004733.4(SLC33A1):c.405G>C (p.Lys135Asn)
NM_004733.4(SLC33A1):c.46C>A (p.Pro16Thr)
NM_004733.4(SLC33A1):c.477C>T (p.Ser159=)
NM_004733.4(SLC33A1):c.48A>G (p.Pro16=)
NM_004733.4(SLC33A1):c.491G>A (p.Arg164His) rs1394665239
NM_004733.4(SLC33A1):c.576T>C (p.Thr192=)
NM_004733.4(SLC33A1):c.61C>G (p.His21Asp)
NM_004733.4(SLC33A1):c.627T>C (p.Asn209=)
NM_004733.4(SLC33A1):c.636T>C (p.Tyr212=)
NM_004733.4(SLC33A1):c.710C>A (p.Ser237Tyr)
NM_004733.4(SLC33A1):c.711T>G (p.Ser237=)
NM_004733.4(SLC33A1):c.714C>T (p.Ala238=)
NM_004733.4(SLC33A1):c.715G>A (p.Asp239Asn)
NM_004733.4(SLC33A1):c.729A>G (p.Lys243=)
NM_004733.4(SLC33A1):c.776-13A>C rs2107981378
NM_004733.4(SLC33A1):c.776-14del
NM_004733.4(SLC33A1):c.776-9C>T
NM_004733.4(SLC33A1):c.811A>G (p.Thr271Ala)
NM_004733.4(SLC33A1):c.819A>G (p.Thr273=)
NM_004733.4(SLC33A1):c.848_850del (p.Glu283del) rs757509671
NM_004733.4(SLC33A1):c.87C>T (p.Pro29=) rs2108019199
NM_004733.4(SLC33A1):c.928G>A (p.Val310Ile) rs2107980673
NM_004733.4(SLC33A1):c.936A>G (p.Thr312=) rs1261159113
NM_004733.4(SLC33A1):c.956C>T (p.Thr319Ile)
NM_004733.4(SLC33A1):c.958G>T (p.Ala320Ser)
NM_004733.4(SLC33A1):c.964-1702_964-1701del
NM_004733.4(SLC33A1):c.98G>A (p.Gly33Asp)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.