List of variants in gene SGSH reported as likely pathogenic for not provided

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)	rs138504221	0.00015
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)	rs144143780	0.00003
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)	rs1057521146	0.00001
NM_000199.5(SGSH):c.1429G>A (p.Asp477Asn)	rs1064795109	0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys)	rs529855742	0.00001
NM_000199.5(SGSH):c.1027dup (p.Leu343fs)	rs778700037
NM_000199.5(SGSH):c.1130G>A (p.Arg377His)	rs746037899
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn)	rs1064794815
NM_000199.5(SGSH):c.1448C>T (p.Pro483Leu)	rs1598736884
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)	rs1131691434
NM_000199.5(SGSH):c.235A>C (p.Thr79Pro)	rs779703983
NM_000199.5(SGSH):c.627C>G (p.Asp209Glu)	rs2144742517
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu)	rs1057521801
NM_000199.5(SGSH):c.726C>T (p.Thr242=)	rs1347877363
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)	rs765361603
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala)	rs758756630

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