ClinVar Miner

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

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Gene type:
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Total variants: 12
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HGVS dbSNP
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.5(SGSH):c.1429G>A (p.Asp477Asn) rs1064795109
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.571G>A (p.Gly191Arg) rs753666460
NM_000199.5(SGSH):c.673T>C (p.Phe225Leu) rs1057521801
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630

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