ClinVar Miner

List of variants reported as benign for mucopolysaccharidosis type 3A by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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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.*855T>C rs1046832 0.48983
NM_000199.5(SGSH):c.*315C>T rs2071148 0.47300
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034 0.31021
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.1116G>A (p.Met372Ile) rs58786455 0.02463
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.675C>T (p.Phe225=) rs34520362 0.00580
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232

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