ClinVar Miner

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

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Total variants: 27
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HGVS dbSNP
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938
NM_000199.5(SGSH):c.1027dup (p.Leu343fs) rs778700037
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.5(SGSH):c.1105G>A (p.Glu369Lys) rs104894640
NM_000199.5(SGSH):c.1135G>A (p.Val379Met) rs541847913
NM_000199.5(SGSH):c.1135del (p.Val379fs) rs777956287
NM_000199.5(SGSH):c.1144_1145insAGCGCC (p.Arg382_His383insGlnArg) rs398123244
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) rs752914124
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln) rs104894641
NM_000199.5(SGSH):c.1337A>G (p.His446Arg) rs148876719
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637
NM_000199.5(SGSH):c.211T>C (p.Ser71Pro) rs398123245
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
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.663+17T>C rs6565647
NM_000199.5(SGSH):c.664-39_664-36delinsGC rs386799751
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly) rs113641837
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.892T>C (p.Ser298Pro) rs138504221
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246

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