ClinVar Miner

List of variants in gene SLC16A1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_003051.4(SLC16A1):c.1063G>A (p.Gly355Arg) rs140728650 0.00035
NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser) rs77373295 0.00029
NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val) rs554138665 0.00021
NM_003051.4(SLC16A1):c.589C>T (p.Pro197Ser) rs574990589 0.00009
NM_003051.4(SLC16A1):c.*77C>T rs868304120 0.00004
NM_003051.4(SLC16A1):c.1117G>A (p.Val373Ile) rs200802632 0.00003
NM_003051.4(SLC16A1):c.983G>A (p.Arg328Gln) rs774823539 0.00003
NM_003051.4(SLC16A1):c.1009G>A (p.Val337Ile) rs746530125 0.00002
NM_003051.4(SLC16A1):c.1285G>A (p.Val429Ile) rs151166713 0.00002
NM_003051.4(SLC16A1):c.610A>G (p.Lys204Glu) rs80358222 0.00002
NM_003051.4(SLC16A1):c.1345G>A (p.Ala449Thr) rs756006376 0.00001
NM_003051.4(SLC16A1):c.40C>G (p.Pro14Ala) rs751574145 0.00001
NM_003051.4(SLC16A1):c.624T>A (p.Asp208Glu) rs879064955 0.00001
NM_003051.4(SLC16A1):c.680A>G (p.His227Arg) rs549501840 0.00001
NM_003051.4(SLC16A1):c.943T>A (p.Ser315Thr) rs1218022056 0.00001
NC_000001.10:g.(?_113456513)_(113460686_?)dup
NC_000001.10:g.(?_113456513)_(113471930_?)dup
NC_000001.10:g.(?_113464592)_(113464775_?)del
NC_000001.10:g.(?_113464592)_(113464775_?)dup
NM_003051.4(SLC16A1):c.*1085dup rs886045060
NM_003051.4(SLC16A1):c.1001C>T (p.Ala334Val)
NM_003051.4(SLC16A1):c.1024G>A (p.Val342Met)
NM_003051.4(SLC16A1):c.1049C>G (p.Ser350Cys)
NM_003051.4(SLC16A1):c.1054A>G (p.Thr352Ala)
NM_003051.4(SLC16A1):c.1055C>T (p.Thr352Ile)
NM_003051.4(SLC16A1):c.1067T>A (p.Phe356Tyr)
NM_003051.4(SLC16A1):c.1070G>A (p.Cys357Tyr)
NM_003051.4(SLC16A1):c.1076A>C (p.Tyr359Ser)
NM_003051.4(SLC16A1):c.1076A>G (p.Tyr359Cys)
NM_003051.4(SLC16A1):c.1076A>T (p.Tyr359Phe)
NM_003051.4(SLC16A1):c.10G>A (p.Ala4Thr)
NM_003051.4(SLC16A1):c.1148G>T (p.Gly383Val)
NM_003051.4(SLC16A1):c.1157G>C (p.Arg386Thr)
NM_003051.4(SLC16A1):c.1211dup (p.Pro406fs)
NM_003051.4(SLC16A1):c.1228+4T>C
NM_003051.4(SLC16A1):c.1229-17T>G
NM_003051.4(SLC16A1):c.1231C>A (p.Arg411=)
NM_003051.4(SLC16A1):c.1231C>T (p.Arg411Trp)
NM_003051.4(SLC16A1):c.1232G>A (p.Arg411Gln)
NM_003051.4(SLC16A1):c.1244T>C (p.Met415Thr)
NM_003051.4(SLC16A1):c.1247A>G (p.Tyr416Cys)
NM_003051.4(SLC16A1):c.1259A>G (p.Lys420Arg)
NM_003051.4(SLC16A1):c.1267T>A (p.Tyr423Asn)
NM_003051.4(SLC16A1):c.1283T>G (p.Val428Gly)
NM_003051.4(SLC16A1):c.1284C>T (p.Val428=)
NM_003051.4(SLC16A1):c.1300G>A (p.Gly434Ser)
NM_003051.4(SLC16A1):c.1301G>A (p.Gly434Asp)
NM_003051.4(SLC16A1):c.1303A>G (p.Ile435Val) rs750932034
NM_003051.4(SLC16A1):c.1303A>T (p.Ile435Phe)
NM_003051.4(SLC16A1):c.1309C>G (p.Leu437Val)
NM_003051.4(SLC16A1):c.1323G>A (p.Met441Ile)
NM_003051.4(SLC16A1):c.1332T>G (p.Asn444Lys)
NM_003051.4(SLC16A1):c.1337G>A (p.Arg446Gln)
NM_003051.4(SLC16A1):c.1346C>T (p.Ala449Val)
NM_003051.4(SLC16A1):c.1354C>A (p.Gln452Lys)
NM_003051.4(SLC16A1):c.1366G>A (p.Glu456Lys)
NM_003051.4(SLC16A1):c.1366G>C (p.Glu456Gln)
NM_003051.4(SLC16A1):c.1369C>T (p.Gln457Ter) rs1340457702
NM_003051.4(SLC16A1):c.1384A>G (p.Lys462Glu)
NM_003051.4(SLC16A1):c.1397C>A (p.Thr466Asn)
NM_003051.4(SLC16A1):c.1403T>C (p.Ile468Thr)
NM_003051.4(SLC16A1):c.1412C>G (p.Ala471Gly)
NM_003051.4(SLC16A1):c.1421C>A (p.Pro474Gln)
NM_003051.4(SLC16A1):c.1429G>C (p.Val477Leu)
NM_003051.4(SLC16A1):c.1447T>A (p.Ser483Thr)
NM_003051.4(SLC16A1):c.1451C>T (p.Pro484Leu)
NM_003051.4(SLC16A1):c.1453G>A (p.Asp485Asn)
NM_003051.4(SLC16A1):c.1453G>T (p.Asp485Tyr)
NM_003051.4(SLC16A1):c.169G>A (p.Glu57Lys)
NM_003051.4(SLC16A1):c.169G>C (p.Glu57Gln)
NM_003051.4(SLC16A1):c.178T>C (p.Trp60Arg)
NM_003051.4(SLC16A1):c.19G>T (p.Gly7Cys)
NM_003051.4(SLC16A1):c.246A>C (p.Lys82Asn)
NM_003051.4(SLC16A1):c.250G>A (p.Gly84Arg)
NM_003051.4(SLC16A1):c.26T>C (p.Val9Ala)
NM_003051.4(SLC16A1):c.340G>A (p.Val114Ile)
NM_003051.4(SLC16A1):c.356T>C (p.Ile119Thr)
NM_003051.4(SLC16A1):c.362-58TATT[4]
NM_003051.4(SLC16A1):c.373G>T (p.Ala125Ser)
NM_003051.4(SLC16A1):c.405T>G (p.Ile135Met)
NM_003051.4(SLC16A1):c.41C>G (p.Pro14Arg) rs763038298
NM_003051.4(SLC16A1):c.422A>G (p.Lys141Arg)
NM_003051.4(SLC16A1):c.461G>A (p.Ser154Asn)
NM_003051.4(SLC16A1):c.466G>C (p.Val156Leu)
NM_003051.4(SLC16A1):c.467T>A (p.Val156Glu)
NM_003051.4(SLC16A1):c.494A>G (p.Asn165Ser)
NM_003051.4(SLC16A1):c.507C>A (p.Phe169Leu)
NM_003051.4(SLC16A1):c.541C>A (p.Leu181Ile)
NM_003051.4(SLC16A1):c.541C>G (p.Leu181Val)
NM_003051.4(SLC16A1):c.545G>C (p.Gly182Ala)
NM_003051.4(SLC16A1):c.556C>G (p.Leu186Val)
NM_003051.4(SLC16A1):c.587G>A (p.Arg196Gln)
NM_003051.4(SLC16A1):c.590C>G (p.Pro197Arg)
NM_003051.4(SLC16A1):c.592A>G (p.Ile198Val)
NM_003051.4(SLC16A1):c.604C>T (p.Pro202Ser)
NM_003051.4(SLC16A1):c.607A>G (p.Thr203Ala)
NM_003051.4(SLC16A1):c.611A>C (p.Lys204Thr)
NM_003051.4(SLC16A1):c.613G>A (p.Ala205Thr)
NM_003051.4(SLC16A1):c.616G>C (p.Gly206Arg)
NM_003051.4(SLC16A1):c.61G>A (p.Ala21Thr)
NM_003051.4(SLC16A1):c.629C>G (p.Ser210Cys)
NM_003051.4(SLC16A1):c.649G>C (p.Ala217Pro)
NM_003051.4(SLC16A1):c.650C>T (p.Ala217Val)
NM_003051.4(SLC16A1):c.662G>A (p.Gly221Asp)
NM_003051.4(SLC16A1):c.673G>T (p.Asp225Tyr)
NM_003051.4(SLC16A1):c.674A>T (p.Asp225Val)
NM_003051.4(SLC16A1):c.680ATG[1] (p.Asp228del)
NM_003051.4(SLC16A1):c.703G>A (p.Gly235Arg)
NM_003051.4(SLC16A1):c.718C>G (p.Gln240Glu)
NM_003051.4(SLC16A1):c.723G>T (p.Glu241Asp)
NM_003051.4(SLC16A1):c.728G>A (p.Arg243Gln)
NM_003051.4(SLC16A1):c.734T>C (p.Val245Ala)
NM_003051.4(SLC16A1):c.749A>T (p.Asn250Ile)
NM_003051.4(SLC16A1):c.751C>G (p.Gln251Glu)
NM_003051.4(SLC16A1):c.77C>G (p.Ala26Gly)
NM_003051.4(SLC16A1):c.782G>A (p.Arg261Lys)
NM_003051.4(SLC16A1):c.799C>G (p.Leu267Val)
NM_003051.4(SLC16A1):c.83T>C (p.Ile28Thr)
NM_003051.4(SLC16A1):c.859T>A (p.Tyr287Asn)
NM_003051.4(SLC16A1):c.872A>C (p.Gln291Pro)
NM_003051.4(SLC16A1):c.875A>G (p.His292Arg)
NM_003051.4(SLC16A1):c.88A>G (p.Ile30Val)
NM_003051.4(SLC16A1):c.900C>A (p.Phe300Leu)
NM_003051.4(SLC16A1):c.901_904del (p.Leu301fs)
NM_003051.4(SLC16A1):c.946A>G (p.Met316Val)
NM_003051.4(SLC16A1):c.965C>A (p.Thr322Lys)
NM_003051.4(SLC16A1):c.978A>T (p.Arg326Ser)
NM_003051.4(SLC16A1):c.983G>T (p.Arg328Leu) rs774823539
NM_003051.4(SLC16A1):c.988C>G (p.Gln330Glu)

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