ClinVar Miner

List of variants reported as uncertain significance for Sialic acid storage disease, severe infantile type; Salla disease

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr) rs141463026 0.00100
NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile) rs140060360 0.00037
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser) rs200632199 0.00029
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr) rs141341430 0.00028
NM_012434.5(SLC17A5):c.1250T>C (p.Ile417Thr) rs201543957 0.00011
NM_012434.5(SLC17A5):c.290C>T (p.Thr97Met) rs554114742 0.00009
NM_012434.5(SLC17A5):c.1316T>C (p.Val439Ala) rs573439155 0.00007
NM_012434.5(SLC17A5):c.1419C>G (p.Phe473Leu) rs374866581 0.00007
NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala) rs372477546 0.00006
NM_012434.5(SLC17A5):c.1375G>A (p.Val459Met) rs555461560 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.760A>G (p.Lys254Glu) rs142050507 0.00002
NM_012434.5(SLC17A5):c.1322C>T (p.Pro441Leu) rs1214170788 0.00001
NM_012434.5(SLC17A5):c.574C>T (p.Pro192Ser) rs149233119 0.00001
NM_012434.5(SLC17A5):c.590A>G (p.Lys197Arg) rs1769125401 0.00001
NM_012434.5(SLC17A5):c.93C>T (p.Ala31=) rs1347154246 0.00001
NM_012434.5(SLC17A5):c.110C>T (p.Ser37Phe)
NM_012434.5(SLC17A5):c.1118T>C (p.Ile373Thr)
NM_012434.5(SLC17A5):c.1119T>G (p.Ile373Met)
NM_012434.5(SLC17A5):c.1123C>T (p.Pro375Ser)
NM_012434.5(SLC17A5):c.1238A>G (p.Asn413Ser)
NM_012434.5(SLC17A5):c.1260G>C (p.Ser420=) rs760766672
NM_012434.5(SLC17A5):c.1414A>G (p.Ile472Val)
NM_012434.5(SLC17A5):c.175A>G (p.Asn59Asp)
NM_012434.5(SLC17A5):c.179T>C (p.Leu60Pro)
NM_012434.5(SLC17A5):c.229A>G (p.Asn77Asp) rs1281494685
NM_012434.5(SLC17A5):c.244G>C (p.Ala82Pro) rs199727701
NM_012434.5(SLC17A5):c.262G>A (p.Ala88Thr)
NM_012434.5(SLC17A5):c.281A>G (p.His94Arg)
NM_012434.5(SLC17A5):c.307T>C (p.Trp103Arg)
NM_012434.5(SLC17A5):c.394A>C (p.Lys132Gln)
NM_012434.5(SLC17A5):c.421T>C (p.Phe141Leu) rs779264733
NM_012434.5(SLC17A5):c.431T>G (p.Leu144Arg)
NM_012434.5(SLC17A5):c.525+3A>G rs768885202
NM_012434.5(SLC17A5):c.525+4A>G
NM_012434.5(SLC17A5):c.525+6T>C
NM_012434.5(SLC17A5):c.575C>G (p.Pro192Arg)
NM_012434.5(SLC17A5):c.59C>A (p.Thr20Lys)
NM_012434.5(SLC17A5):c.71C>T (p.Pro24Leu)
NM_012434.5(SLC17A5):c.775T>C (p.Ser259Pro)
NM_012434.5(SLC17A5):c.77C>A (p.Ala26Asp)
NM_012434.5(SLC17A5):c.782A>G (p.Tyr261Cys)
NM_012434.5(SLC17A5):c.802T>C (p.Ser268Pro)
NM_012434.5(SLC17A5):c.819G>T (p.Gln273His)
NM_012434.5(SLC17A5):c.872T>A (p.Leu291His)
NM_012434.5(SLC17A5):c.94G>T (p.Ala32Ser)
NM_012434.5(SLC17A5):c.985T>C (p.Phe329Leu)

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