List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 by Fulgent Genetics, Fulgent Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_152419.3(HGSNAT):c.493+1G>A	rs193066451	0.00013
NM_152419.3(HGSNAT):c.1411G>A (p.Glu471Lys)	rs753355844	0.00002
NM_152419.3(HGSNAT):c.372-2A>G	rs483352896	0.00002
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)	rs121908285	0.00001
NM_152419.3(HGSNAT):c.1348del (p.Asp450fs)	rs771455190	0.00001
NM_152419.3(HGSNAT):c.234+1G>A	rs483352908	0.00001
NM_152419.3(HGSNAT):c.1437dup (p.Ile480fs)	rs759057396
NM_152419.3(HGSNAT):c.525dup (p.Val176fs)	rs483352895

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