ClinVar Miner

List of variants in gene SLC16A2 reported as uncertain significance for Spastic paraplegia

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_006517.5(SLC16A2):c.572C>G (p.Thr191Ser) rs375483786 0.00004
NM_006517.5(SLC16A2):c.1204A>T (p.Met402Leu) rs773263889 0.00003
NM_006517.5(SLC16A2):c.257G>A (p.Arg86His) rs891497471 0.00003
NM_006517.5(SLC16A2):c.148G>A (p.Glu50Lys) rs756065515 0.00002
NM_006517.5(SLC16A2):c.1235G>A (p.Gly412Asp) rs1312142074 0.00001
NM_006517.5(SLC16A2):c.1366G>T (p.Ala456Ser) rs753333178 0.00001
NM_006517.5(SLC16A2):c.1608G>A (p.Glu536=) rs1407216782 0.00001
NM_006517.5(SLC16A2):c.202G>A (p.Glu68Lys) rs1034820850 0.00001
NM_006517.5(SLC16A2):c.524C>T (p.Thr175Ile) rs753832797 0.00001
NM_006517.5(SLC16A2):c.52G>A (p.Ala18Thr) rs1928296742 0.00001
NM_006517.5(SLC16A2):c.938T>C (p.Met313Thr) rs1930462863 0.00001
NM_006517.5(SLC16A2):c.1084T>C (p.Cys362Arg) rs1555989837
NM_006517.5(SLC16A2):c.1088T>C (p.Ile363Thr)
NM_006517.5(SLC16A2):c.1106T>C (p.Leu369Pro)
NM_006517.5(SLC16A2):c.1108G>C (p.Gly370Arg)
NM_006517.5(SLC16A2):c.1109G>A (p.Gly370Glu)
NM_006517.5(SLC16A2):c.1132A>C (p.Ser378Arg) rs2147871016
NM_006517.5(SLC16A2):c.1145C>T (p.Pro382Leu) rs1930480393
NM_006517.5(SLC16A2):c.120G>T (p.Glu40Asp)
NM_006517.5(SLC16A2):c.1231G>A (p.Gly411Arg) rs147814121
NM_006517.5(SLC16A2):c.1234G>C (p.Gly412Arg)
NM_006517.5(SLC16A2):c.1238T>G (p.Leu413Arg) rs1569300461
NM_006517.5(SLC16A2):c.1244T>A (p.Val415Asp) rs1569300465
NM_006517.5(SLC16A2):c.1274G>T (p.Gly425Val) rs1449997865
NM_006517.5(SLC16A2):c.127C>G (p.Pro43Ala)
NM_006517.5(SLC16A2):c.1293G>A (p.Met431Ile)
NM_006517.5(SLC16A2):c.1300A>T (p.Ile434Phe)
NM_006517.5(SLC16A2):c.1375A>T (p.Met459Leu)
NM_006517.5(SLC16A2):c.1377G>T (p.Met459Ile)
NM_006517.5(SLC16A2):c.1380del (p.Ile460fs) rs1930533677
NM_006517.5(SLC16A2):c.1394T>C (p.Ile465Thr)
NM_006517.5(SLC16A2):c.1481T>G (p.Leu494Arg) rs104894938
NM_006517.5(SLC16A2):c.1486T>C (p.Phe496Leu)
NM_006517.5(SLC16A2):c.1505A>G (p.Gln502Arg)
NM_006517.5(SLC16A2):c.1512G>C (p.Met504Ile) rs1289700497
NM_006517.5(SLC16A2):c.151C>T (p.Pro51Ser)
NM_006517.5(SLC16A2):c.1550T>C (p.Met517Thr)
NM_006517.5(SLC16A2):c.163C>A (p.Pro55Thr)
NM_006517.5(SLC16A2):c.197A>G (p.Glu66Gly)
NM_006517.5(SLC16A2):c.224A>G (p.His75Arg) rs2147833992
NM_006517.5(SLC16A2):c.24C>G (p.Ser8Arg)
NM_006517.5(SLC16A2):c.251A>G (p.Glu84Gly)
NM_006517.5(SLC16A2):c.269_270delinsAA (p.Arg90Gln)
NM_006517.5(SLC16A2):c.401A>G (p.Glu134Gly)
NM_006517.5(SLC16A2):c.430+5G>T rs1569281220
NM_006517.5(SLC16A2):c.492C>A (p.Phe164Leu) rs1555989369
NM_006517.5(SLC16A2):c.500G>A (p.Arg167His)
NM_006517.5(SLC16A2):c.506G>T (p.Gly169Val)
NM_006517.5(SLC16A2):c.532G>T (p.Ala178Ser)
NM_006517.5(SLC16A2):c.551G>A (p.Gly184Asp)
NM_006517.5(SLC16A2):c.558T>A (p.His186Gln) rs1930399390
NM_006517.5(SLC16A2):c.59A>G (p.Gln20Arg)
NM_006517.5(SLC16A2):c.617G>A (p.Gly206Asp) rs1930456883
NM_006517.5(SLC16A2):c.626G>A (p.Cys209Tyr)
NM_006517.5(SLC16A2):c.652G>A (p.Val218Ile)
NM_006517.5(SLC16A2):c.679C>T (p.Arg227Cys)
NM_006517.5(SLC16A2):c.731T>A (p.Met244Lys) rs2147870573
NM_006517.5(SLC16A2):c.826C>T (p.Leu276Phe)
NM_006517.5(SLC16A2):c.856A>G (p.Ser286Gly)
NM_006517.5(SLC16A2):c.856A>T (p.Ser286Cys)
NM_006517.5(SLC16A2):c.890G>C (p.Arg297Pro) rs780086745
NM_006517.5(SLC16A2):c.892A>G (p.Thr298Ala)
NM_006517.5(SLC16A2):c.904C>T (p.Arg302Cys)
NM_006517.5(SLC16A2):c.914C>T (p.Ala305Val) rs1602142117
NM_006517.5(SLC16A2):c.925A>G (p.Lys309Glu) rs2147870660
NM_006517.5(SLC16A2):c.944T>C (p.Val315Ala)
NM_006517.5(SLC16A2):c.955C>T (p.Arg319Cys)
NM_006517.5(SLC16A2):c.956G>A (p.Arg319His)
NM_006517.5(SLC16A2):c.96_97insCCTGAGCCGGAG (p.Glu32_Ser33insProGluProGlu)
NM_006517.5(SLC16A2):c.97_108del (p.Ser33_Glu36del) rs753170095
NM_006517.5(SLC16A2):c.97_108dup (p.Glu36_Pro37insSerGluProGlu)

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