ClinVar Miner

List of variants in gene SGSH reported by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 18
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HGVS dbSNP
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.1129C>T (p.Arg377Cys) rs772311757
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780
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.1301C>T (p.Ala434Val) rs76375023
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.249+25G>T rs200104349
NM_000199.5(SGSH):c.250-26C>T rs4889839
NM_000199.5(SGSH):c.606C>T (p.Ser202=) rs544509805
NM_000199.5(SGSH):c.658G>A (p.Val220Met) rs150508741
NM_000199.5(SGSH):c.663+17T>C rs6565647
NM_000199.5(SGSH):c.746-4A>G rs7218267
NM_000199.5(SGSH):c.88+23C>G rs77032342

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