ClinVar Miner

List of variants reported for Mucopolysaccharidosis, MPS-III-C by Undiagnosed Diseases Network, NIH

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_152419.3(HGSNAT):c.493+809T>C	rs1042066401	0.00001
NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met)	rs1318217031
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)	rs1064795522
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)	rs763301637

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