ClinVar Miner

List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-III-C by Natera, Inc.

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Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285
NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) rs775078211
NM_152419.3(HGSNAT):c.1250+1G>A rs398124544
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844
NM_152419.3(HGSNAT):c.372-2A>G rs483352896
NM_152419.3(HGSNAT):c.493+1G>A rs193066451

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