List of variants in gene combination HGSNAT, LOC130000316 reported as 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	gnomAD frequency
NM_152419.3(HGSNAT):c.10del (p.Ala4fs)
NM_152419.3(HGSNAT):c.111del (p.Pro38fs)	rs1802484500
NM_152419.3(HGSNAT):c.74_75del (p.Pro25fs)
NM_152419.3(HGSNAT):c.86C>A (p.Ser29Ter)
NM_152419.3(HGSNAT):c.87_100dup (p.Gln34fs)	rs2130648345
NM_152419.3(HGSNAT):c.90dup (p.Arg31fs)	rs2130648385

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