ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-III-C by Myriad Women's Health, Inc.

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Total variants: 12
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HGVS dbSNP
NM_152419.3(HGSNAT):c.1170G>A (p.Trp390Ter)
NM_152419.3(HGSNAT):c.1411G>T (p.Glu471Ter)
NM_152419.3(HGSNAT):c.1567A>T (p.Lys523Ter)
NM_152419.3(HGSNAT):c.157C>T (p.Gln53Ter)
NM_152419.3(HGSNAT):c.220G>T (p.Glu74Ter)
NM_152419.3(HGSNAT):c.265C>T (p.Gln89Ter)
NM_152419.3(HGSNAT):c.283A>T (p.Lys95Ter)
NM_152419.3(HGSNAT):c.391G>T (p.Glu131Ter)
NM_152419.3(HGSNAT):c.433G>T (p.Gly145Ter)
NM_152419.3(HGSNAT):c.469G>T (p.Glu157Ter)
NM_152419.3(HGSNAT):c.784G>T (p.Gly262Ter)
NM_152419.3(HGSNAT):c.925A>T (p.Arg309Ter)

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