ClinVar Miner

List of variants in gene SGSH reported as benign by Invitae

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Total variants: 21
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HGVS dbSNP
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile) rs58786455
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile) rs34297805
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761
NM_000199.5(SGSH):c.522C>T (p.Tyr174=) rs147064455
NM_000199.5(SGSH):c.633C>A (p.Thr211=) rs187147954
NM_000199.5(SGSH):c.663+17T>C rs6565647
NM_000199.5(SGSH):c.675C>T (p.Phe225=) rs34520362
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly) rs113641837
NM_000199.5(SGSH):c.746-4A>G rs7218267
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala) rs144461610
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770

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