ClinVar Miner

List of variants reported as benign for Mucopolysaccharidosis, MPS-III-C

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058 0.99137
NM_152419.3(HGSNAT):c.*1801T>C rs3739431 0.87926
NM_152419.3(HGSNAT):c.371+82C>T rs10958738 0.72852
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428 0.24617
NM_152419.3(HGSNAT):c.*1780C>T rs1058608 0.04517
NM_152419.3(HGSNAT):c.*1216G>A rs73569597 0.04318
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_152419.3(HGSNAT):c.*1231G>A rs61743005 0.03511
NM_152419.3(HGSNAT):c.*585T>C rs73675470 0.02497
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469 0.02491
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342 0.01160
NM_152419.3(HGSNAT):c.*733G>T rs139144727 0.00805
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00638
NM_152419.3(HGSNAT):c.*477G>A rs76878005 0.00528
NM_152419.3(HGSNAT):c.*1212C>T rs186132187 0.00520
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999 0.00442
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00346
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=) rs549139396 0.00256
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met) rs200416815 0.00077
NM_152419.3(HGSNAT):c.*1086G>C rs145370743
NM_152419.3(HGSNAT):c.*1942A>G rs112626858
NM_152419.3(HGSNAT):c.*2755C>T rs76686222
NM_152419.3(HGSNAT):c.*600C>T rs377372501
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962

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