ClinVar Miner

List of variants in gene SGSH reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579
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.1283G>A (p.Arg428His) rs144862290
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val) rs76375023
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764
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.658G>A (p.Val220Met) rs150508741
NM_000199.5(SGSH):c.730G>A (p.Gly244Ser) rs773480617
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.950-65C>T
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.