ClinVar Miner

List of variants reported as likely benign for mucopolysaccharidosis type 3C by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_152419.3(HGSNAT):c.*817C>T rs78952714 0.01352
NM_152419.3(HGSNAT):c.*3213T>A rs141634395 0.00899
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_152419.3(HGSNAT):c.*2258A>G rs78930544 0.00584
NM_152419.3(HGSNAT):c.*2767C>T rs74762381 0.00479
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999 0.00475
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_152419.3(HGSNAT):c.*2740C>T rs114940430 0.00314
NM_152419.3(HGSNAT):c.*106G>A rs186881132 0.00024
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143 0.00019
NM_152419.3(HGSNAT):c.*2802C>G rs187372766

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