ClinVar Miner

List of variants in gene SLC33A1 reported as likely benign for Spastic paraplegia

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
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.1451A>C (p.Asn484Thr) rs144015992 0.00190
NM_004733.4(SLC33A1):c.177C>T (p.Gly59=) rs139129650 0.00026
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.687T>C (p.Asn229=) rs146423648 0.00010
NM_004733.4(SLC33A1):c.267G>A (p.Leu89=) rs370658911 0.00009
NM_004733.4(SLC33A1):c.1602G>A (p.Lys534=) rs757490105 0.00004
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.972T>C (p.Phe324=) rs139561128 0.00002
NM_004733.4(SLC33A1):c.1148+7A>G rs773852747 0.00001
NM_004733.4(SLC33A1):c.537C>T (p.Leu179=) rs751374068 0.00001
NM_004733.4(SLC33A1):c.813A>G (p.Thr271=) rs1201903329 0.00001
NM_004733.4(SLC33A1):c.1042T>C (p.Leu348=)
NM_004733.4(SLC33A1):c.1063T>C (p.Leu355=)
NM_004733.4(SLC33A1):c.1089C>A (p.Ile363=) rs780161061
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.1266+9G>C rs878854744
NM_004733.4(SLC33A1):c.1267-15T>C
NM_004733.4(SLC33A1):c.1278C>T (p.Tyr426=)
NM_004733.4(SLC33A1):c.1362C>T (p.Thr454=)
NM_004733.4(SLC33A1):c.1413A>G (p.Val471=) rs2109304787
NM_004733.4(SLC33A1):c.1425A>C (p.Thr475=) rs777226978
NM_004733.4(SLC33A1):c.1530T>C (p.Tyr510=) rs1752271816
NM_004733.4(SLC33A1):c.1560T>C (p.Ile520=)
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.162G>A (p.Gly54=)
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.381G>A (p.Pro127=)
NM_004733.4(SLC33A1):c.477C>T (p.Ser159=)
NM_004733.4(SLC33A1):c.48A>G (p.Pro16=)
NM_004733.4(SLC33A1):c.576T>C (p.Thr192=)
NM_004733.4(SLC33A1):c.627T>C (p.Asn209=)
NM_004733.4(SLC33A1):c.636T>C (p.Tyr212=)
NM_004733.4(SLC33A1):c.711T>G (p.Ser237=)
NM_004733.4(SLC33A1):c.714C>T (p.Ala238=)
NM_004733.4(SLC33A1):c.729A>G (p.Lys243=)
NM_004733.4(SLC33A1):c.776-13A>C rs2107981378
NM_004733.4(SLC33A1):c.776-9C>T
NM_004733.4(SLC33A1):c.819A>G (p.Thr273=)
NM_004733.4(SLC33A1):c.87C>T (p.Pro29=) rs2108019199
NM_004733.4(SLC33A1):c.936A>G (p.Thr312=) rs1261159113
NM_004733.4(SLC33A1):c.964-1702_964-1701del

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