ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-III-C by OMIM

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Total variants: 12
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HGVS dbSNP
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys) rs764206492
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) rs121908284
NM_152419.3(HGSNAT):c.1553C>T (p.Ser518Phe) rs121908286
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152419.3(HGSNAT):c.234+1G>A rs483352908
NM_152419.3(HGSNAT):c.372-2A>G rs483352896
NM_152419.3(HGSNAT):c.493+1G>A rs193066451
NM_152419.3(HGSNAT):c.525dup (p.Val176fs) rs483352895
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282
NM_152419.3(HGSNAT):c.962T>G (p.Leu321Ter) rs121908283

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