List of variants in gene combination LOC130061900, SGSH reported as likely benign for mucopolysaccharidosis

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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000199.5(SGSH):c.6C>T (p.Ser2=)	rs1043643087	0.00029
NM_000199.5(SGSH):c.12C>A (p.Pro4=)	rs921772690
NM_000199.5(SGSH):c.12C>G (p.Pro4=)	rs921772690
NM_000199.5(SGSH):c.12C>T (p.Pro4=)	rs921772690
NM_000199.5(SGSH):c.15G>A (p.Val5=)	rs1040195143
NM_000199.5(SGSH):c.15G>C (p.Val5=)	rs1040195143
NM_000199.5(SGSH):c.15G>T (p.Val5=)	rs1040195143
NM_000199.5(SGSH):c.18C>T (p.Pro6=)
NM_000199.5(SGSH):c.9C>T (p.Cys3=)	rs2144833432

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