ClinVar Miner

List of variants reported as uncertain significance for Salla disease by Invitae

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile) rs140060360 0.00037
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser) rs200632199 0.00032
NM_012434.5(SLC17A5):c.703A>T (p.Thr235Ser) rs747385791 0.00009
NM_012434.5(SLC17A5):c.1316T>C (p.Val439Ala) rs573439155 0.00007
NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala) rs372477546 0.00006
NM_012434.5(SLC17A5):c.710G>A (p.Gly237Glu) rs374659214 0.00005
NM_012434.5(SLC17A5):c.646C>G (p.Leu216Val) rs781359811 0.00004
NM_012434.5(SLC17A5):c.704C>T (p.Thr235Ile) rs540645365 0.00004
NM_012434.5(SLC17A5):c.1192A>G (p.Ile398Val) rs374771372 0.00003
NM_012434.5(SLC17A5):c.1056A>C (p.Leu352Phe) rs985998169 0.00002
NM_012434.5(SLC17A5):c.1333A>G (p.Lys445Glu) rs751011039 0.00002
NM_012434.5(SLC17A5):c.1481G>C (p.Arg494Thr) rs201009218 0.00002
NM_012434.5(SLC17A5):c.842C>T (p.Pro281Leu) rs138041282 0.00002
NM_012434.5(SLC17A5):c.1021T>C (p.Cys341Arg) rs142972941 0.00001
NM_012434.5(SLC17A5):c.1138G>A (p.Val380Ile) rs201724072 0.00001
NM_012434.5(SLC17A5):c.1154T>C (p.Ile385Thr) rs758772703 0.00001
NM_012434.5(SLC17A5):c.1160G>C (p.Cys387Ser) rs373162864 0.00001
NM_012434.5(SLC17A5):c.1261T>A (p.Tyr421Asn) rs775750187 0.00001
NM_012434.5(SLC17A5):c.1322C>T (p.Pro441Leu) rs1214170788 0.00001
NM_012434.5(SLC17A5):c.137C>G (p.Ala46Gly) rs371810705 0.00001
NM_012434.5(SLC17A5):c.1387G>A (p.Ala463Thr) rs367852327 0.00001
NM_012434.5(SLC17A5):c.146G>T (p.Gly49Val) rs754877029 0.00001
NM_012434.5(SLC17A5):c.338G>A (p.Gly113Asp) rs750771008 0.00001
NM_012434.5(SLC17A5):c.542C>G (p.Ala181Gly) rs1303660578 0.00001
NM_012434.5(SLC17A5):c.660T>G (p.Ile220Met) rs201408081 0.00001
NM_012434.5(SLC17A5):c.724C>A (p.Leu242Ile) rs757218186 0.00001
NM_012434.5(SLC17A5):c.762A>C (p.Lys254Asn) rs767502652 0.00001
NM_012434.5(SLC17A5):c.95-13A>G rs1181668892 0.00001
NC_000006.11:g.(?_74189435)_(74363609_?)dup
NC_000006.11:g.(?_74304780)_(74363629_?)dup
NC_000006.11:g.(?_74304800)_(74310184_?)dup
NM_012434.5(SLC17A5):c.1087G>A (p.Val363Ile) rs2150091513
NM_012434.5(SLC17A5):c.10C>G (p.Pro4Ala)
NM_012434.5(SLC17A5):c.1141G>C (p.Ala381Pro)
NM_012434.5(SLC17A5):c.1153A>G (p.Ile385Val)
NM_012434.5(SLC17A5):c.1201A>G (p.Thr401Ala)
NM_012434.5(SLC17A5):c.1202C>T (p.Thr401Ile)
NM_012434.5(SLC17A5):c.1250T>C (p.Ile417Thr)
NM_012434.5(SLC17A5):c.1259+3G>A
NM_012434.5(SLC17A5):c.1260G>C (p.Ser420=) rs760766672
NM_012434.5(SLC17A5):c.127G>A (p.Ala43Thr) rs545973
NM_012434.5(SLC17A5):c.130A>G (p.Ile44Val)
NM_012434.5(SLC17A5):c.1349A>G (p.Asp450Gly)
NM_012434.5(SLC17A5):c.1352A>G (p.Asn451Ser)
NM_012434.5(SLC17A5):c.1355C>G (p.Thr452Ser)
NM_012434.5(SLC17A5):c.1369C>T (p.Gln457Ter)
NM_012434.5(SLC17A5):c.1375G>A (p.Val459Met)
NM_012434.5(SLC17A5):c.1419C>G (p.Phe473Leu)
NM_012434.5(SLC17A5):c.1462_1464del (p.Asn488del)
NM_012434.5(SLC17A5):c.197A>G (p.Asp66Gly)
NM_012434.5(SLC17A5):c.229A>G (p.Asn77Asp)
NM_012434.5(SLC17A5):c.22C>G (p.Leu8Val)
NM_012434.5(SLC17A5):c.233G>C (p.Arg78Thr)
NM_012434.5(SLC17A5):c.262G>C (p.Ala88Pro)
NM_012434.5(SLC17A5):c.266C>A (p.Pro89His)
NM_012434.5(SLC17A5):c.275T>C (p.Val92Ala) rs2150120727
NM_012434.5(SLC17A5):c.290C>T (p.Thr97Met)
NM_012434.5(SLC17A5):c.310G>A (p.Asp104Asn) rs2150118480
NM_012434.5(SLC17A5):c.35A>G (p.Asp12Gly)
NM_012434.5(SLC17A5):c.36T>A (p.Asp12Glu)
NM_012434.5(SLC17A5):c.373C>T (p.Pro125Ser)
NM_012434.5(SLC17A5):c.388G>A (p.Ala130Thr) rs201070520
NM_012434.5(SLC17A5):c.401G>T (p.Gly134Val)
NM_012434.5(SLC17A5):c.413T>C (p.Leu138Pro)
NM_012434.5(SLC17A5):c.421T>C (p.Phe141Leu)
NM_012434.5(SLC17A5):c.494T>C (p.Ile165Thr)
NM_012434.5(SLC17A5):c.505G>C (p.Ala169Pro)
NM_012434.5(SLC17A5):c.50C>T (p.Thr17Met) rs2150128046
NM_012434.5(SLC17A5):c.512_514del (p.Glu171del) rs2150118267
NM_012434.5(SLC17A5):c.525+3A>G
NM_012434.5(SLC17A5):c.544A>T (p.Met182Leu) rs1454840237
NM_012434.5(SLC17A5):c.55C>T (p.Arg19Cys)
NM_012434.5(SLC17A5):c.578T>C (p.Leu193Pro)
NM_012434.5(SLC17A5):c.586A>G (p.Ser196Gly)
NM_012434.5(SLC17A5):c.590A>G (p.Lys197Arg)
NM_012434.5(SLC17A5):c.680C>A (p.Thr227Asn)
NM_012434.5(SLC17A5):c.680C>G (p.Thr227Ser) rs2150113556
NM_012434.5(SLC17A5):c.758A>G (p.Gln253Arg)
NM_012434.5(SLC17A5):c.760A>G (p.Lys254Glu)
NM_012434.5(SLC17A5):c.776C>T (p.Ser259Phe) rs149340734
NM_012434.5(SLC17A5):c.818A>G (p.Gln273Arg) rs761959120
NM_012434.5(SLC17A5):c.880A>C (p.Ile294Leu)

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