List of variants in gene HGSNAT reported as likely pathogenic for Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP
NC_000008.10:g.(?_43028846)_(43028896_?)dup
NM_152419.3(HGSNAT):c.1013-1G>C
NM_152419.3(HGSNAT):c.1129-2A>T	rs749568919
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)	rs121908284
NM_152419.3(HGSNAT):c.563+2T>A
NM_152419.3(HGSNAT):c.848C>T (p.Pro283Leu)	rs121908282

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