ClinVar Miner

List of variants in gene SGSH reported by Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova

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Total variants: 13
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HGVS dbSNP
NM_000199.5(SGSH):c.1080del (p.Val361fs) rs770947426
NM_000199.5(SGSH):c.1097del (p.Ser366fs) rs1598738720
NM_000199.5(SGSH):c.1147del (p.His383fs) rs1598738369
NM_000199.5(SGSH):c.118T>A (p.Tyr40Asn) rs1598758001
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.221G>A (p.Arg74His) rs778336949
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg) rs761607612
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) rs1479831530
NM_000199.5(SGSH):c.542A>G (p.His181Arg) rs776228545
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742
NM_000199.5(SGSH):c.617G>C (p.Arg206Pro) rs104894643

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