ClinVar Miner

List of variants reported as likely benign for Mucopolysaccharidosis, MPS-III-C by Illumina Clinical Services Laboratory,Illumina

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Total variants: 12
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HGVS dbSNP
NM_152419.3(HGSNAT):c.*106G>A
NM_152419.3(HGSNAT):c.*2258A>G rs78930544
NM_152419.3(HGSNAT):c.*2740C>T
NM_152419.3(HGSNAT):c.*2767C>T
NM_152419.3(HGSNAT):c.*2802C>G
NM_152419.3(HGSNAT):c.*3213T>A rs141634395
NM_152419.3(HGSNAT):c.*817C>T
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032

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