List of variants in gene SGSH reported as benign for Mucopolysaccharidosis, MPS-III-A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 39

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000199.5(SGSH):c.*848C>G	rs709677	0.67025
NM_000199.5(SGSH):c.*840A>G	rs709678	0.66962
NM_000199.5(SGSH):c.250-26C>T	rs4889839	0.54568
NM_000199.5(SGSH):c.*855T>C	rs1046832	0.48983
NM_000199.5(SGSH):c.*315C>T	rs2071148	0.47300
NM_000199.5(SGSH):c.663+17T>C	rs6565647	0.46516
NM_000199.5(SGSH):c.664-36T>C	rs35087113	0.31148
NM_000199.5(SGSH):c.1367G>A (p.Arg456His)	rs7503034	0.31021
NM_000199.5(SGSH):c.89-45G>A	rs9900509	0.11554
NM_000199.5(SGSH):c.89-39G>A	rs9900502	0.11282
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile)	rs9894254	0.07931
NM_000199.5(SGSH):c.*833A>G	rs2012452	0.07846
NM_000199.5(SGSH):c.746-4A>G	rs7218267	0.04487
NM_000199.5(SGSH):c.664-50G>A	rs117217614	0.03422
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile)	rs58786455	0.02463
NM_000199.5(SGSH):c.249+52G>A	rs113672699	0.02447
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile)	rs34297805	0.01381
NM_000199.5(SGSH):c.*201A>T	rs139066649	0.00913
NM_000199.5(SGSH):c.*415A>G	rs141810727	0.00910
NM_000199.5(SGSH):c.522C>T (p.Tyr174=)	rs147064455	0.00647
NM_000199.5(SGSH):c.675C>T (p.Phe225=)	rs34520362	0.00580
NM_000199.5(SGSH):c.249+25G>T	rs200104349	0.00372
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly)	rs113641837	0.00359
NM_000199.5(SGSH):c.411G>A (p.Ala137=)	rs142557761	0.00230
NM_000199.5(SGSH):c.1283G>A (p.Arg428His)	rs144862290	0.00186
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala)	rs144461610	0.00148
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)	rs145596938	0.00113
NM_000199.5(SGSH):c.390C>T (p.Thr130=)	rs111761143	0.00105
NM_000199.5(SGSH):c.1446C>T (p.Ala482=)	rs113679696	0.00097
NM_000199.5(SGSH):c.303C>T (p.Phe101=)	rs150482611	0.00088
NM_000199.5(SGSH):c.1428C>T (p.His476=)	rs139460639	0.00066
NM_000199.5(SGSH):c.746-16C>T	rs376577518	0.00049
NM_000199.5(SGSH):c.780C>T (p.Ala260=)	rs530964770	0.00023
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys)	rs368650877	0.00005
NM_000199.5(SGSH):c.633C>A (p.Thr211=)	rs187147954	0.00003
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)	rs62620232
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys)	rs200644359
NM_000199.5(SGSH):c.664-39_664-36delinsGC	rs386799751
NM_000199.5(SGSH):c.664-39_664-38del	rs34029730

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.