ClinVar Miner

List of variants studied for free sialic acid storage disease, infantile form by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 86
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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.115C>T (p.Arg39Cys) rs80338794 0.00049
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser) rs200632199 0.00032
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr) rs141341430 0.00028
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter) rs201284672 0.00013
NM_012434.5(SLC17A5):c.1316T>C (p.Val439Ala) rs573439155 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala) rs372477546 0.00006
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156 0.00006
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.291G>A (p.Thr97=) rs386833990 0.00002
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992 0.00002
NM_012434.5(SLC17A5):c.116G>A (p.Arg39His) rs769235753 0.00001
NM_012434.5(SLC17A5):c.1322C>T (p.Pro441Leu) rs1214170788 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410 0.00001
NM_012434.5(SLC17A5):c.667dup (p.Tyr223fs) rs1472109408 0.00001
NM_012434.5(SLC17A5):c.93C>T (p.Ala31=) rs1347154246 0.00001
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110
NM_012434.5(SLC17A5):c.110C>T (p.Ser37Phe)
NM_012434.5(SLC17A5):c.1111+1G>T rs777862172
NM_012434.5(SLC17A5):c.1112-8A>C rs1581962639
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.1250T>C (p.Ile417Thr)
NM_012434.5(SLC17A5):c.1260-2A>C
NM_012434.5(SLC17A5):c.1260G>C (p.Ser420=) rs760766672
NM_012434.5(SLC17A5):c.1375G>A (p.Val459Met)
NM_012434.5(SLC17A5):c.1414A>G (p.Ile472Val)
NM_012434.5(SLC17A5):c.1419C>G (p.Phe473Leu)
NM_012434.5(SLC17A5):c.144dup (p.Gly49fs) rs1562000876
NM_012434.5(SLC17A5):c.16C>T (p.Arg6Ter)
NM_012434.5(SLC17A5):c.175A>G (p.Asn59Asp)
NM_012434.5(SLC17A5):c.179T>C (p.Leu60Pro)
NM_012434.5(SLC17A5):c.1A>T (p.Met1Leu) rs1304456183
NM_012434.5(SLC17A5):c.1del (p.Met1*)
NM_012434.5(SLC17A5):c.229A>G (p.Asn77Asp)
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.286C>T (p.Gln96Ter)
NM_012434.5(SLC17A5):c.290C>T (p.Thr97Met)
NM_012434.5(SLC17A5):c.294_310del
NM_012434.5(SLC17A5):c.307T>C (p.Trp103Arg)
NM_012434.5(SLC17A5):c.394A>C (p.Lys132Gln)
NM_012434.5(SLC17A5):c.418G>T (p.Gly140Ter)
NM_012434.5(SLC17A5):c.421T>C (p.Phe141Leu)
NM_012434.5(SLC17A5):c.431T>G (p.Leu144Arg)
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter) rs727504157
NM_012434.5(SLC17A5):c.4del (p.Arg2fs)
NM_012434.5(SLC17A5):c.501_502del (p.Arg168fs)
NM_012434.5(SLC17A5):c.525+3A>G
NM_012434.5(SLC17A5):c.525+4A>G
NM_012434.5(SLC17A5):c.525+6T>C
NM_012434.5(SLC17A5):c.543dup (p.Met182fs)
NM_012434.5(SLC17A5):c.558G>A (p.Trp186Ter)
NM_012434.5(SLC17A5):c.575C>G (p.Pro192Arg)
NM_012434.5(SLC17A5):c.575dup (p.Leu193fs)
NM_012434.5(SLC17A5):c.57_72del (p.Thr20fs)
NM_012434.5(SLC17A5):c.590A>G (p.Lys197Arg)
NM_012434.5(SLC17A5):c.59C>A (p.Thr20Lys)
NM_012434.5(SLC17A5):c.619C>T (p.Gln207Ter) rs1769021763
NM_012434.5(SLC17A5):c.677G>A (p.Trp226Ter)
NM_012434.5(SLC17A5):c.694_695delinsC (p.Phe232fs)
NM_012434.5(SLC17A5):c.71C>T (p.Pro24Leu)
NM_012434.5(SLC17A5):c.724_727del (p.Leu242fs)
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter) rs755923873
NM_012434.5(SLC17A5):c.760A>G (p.Lys254Glu)
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.790G>T (p.Glu264Ter)
NM_012434.5(SLC17A5):c.802T>C (p.Ser268Pro)
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_012434.5(SLC17A5):c.819+1G>A rs1057517028
NM_012434.5(SLC17A5):c.819G>T (p.Gln273His)
NM_012434.5(SLC17A5):c.829C>T (p.Gln277Ter) rs1768174708
NM_012434.5(SLC17A5):c.872T>A (p.Leu291His)
NM_012434.5(SLC17A5):c.905del (p.Asn302fs) rs771156053
NM_012434.5(SLC17A5):c.94G>T (p.Ala32Ser)
NM_012434.5(SLC17A5):c.979-1G>T
NM_012434.5(SLC17A5):c.985T>C (p.Phe329Leu)

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