ClinVar Miner

List of variants in gene SGSH reported as uncertain significance by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 10
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HGVS dbSNP
NM_000199.5(SGSH):c.1135G>A (p.Val379Met) rs541847913
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.Arg382_His383insGlnArg) rs398123244
NM_000199.5(SGSH):c.211T>C (p.Ser71Pro) rs398123245
NM_000199.5(SGSH):c.292T>C (p.Phe98Leu) rs777669364
NM_000199.5(SGSH):c.297C>G (p.Asn99Lys) rs755846091
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu) rs104894635
NM_000199.5(SGSH):c.78GCT[3] (p.Leu29dup) rs786200990
NM_000199.5(SGSH):c.816C>T (p.Ser272=) rs200485062
NM_000199.5(SGSH):c.841G>T (p.Gly281Cys) rs541222703
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246

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