List of variants studied for Mucopolysaccharidosis type 6 by Pars Genome Lab

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000046.5(ARSB):c.1143-27A>C	rs25415	0.35324
NM_000046.5(ARSB):c.1072G>A (p.Val358Met)	rs1065757	0.34419
NM_000046.5(ARSB):c.313-26T>C	rs3733895	0.30072
NM_000046.5(ARSB):c.1191G>A (p.Pro397=)	rs25413	0.27041
NM_000046.5(ARSB):c.691-22T>C	rs6870443	0.13972
NM_000046.5(ARSB):c.1126G>A (p.Val376Met)	rs1071598	0.12316

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