ClinVar Miner

List of variants reported as benign for Mucopolysaccharidosis, MPS-III-A by Illumina Clinical Services Laboratory,Illumina

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Total variants: 14
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HGVS dbSNP
NM_000199.5(SGSH):c.*201A>T rs139066649
NM_000199.5(SGSH):c.*315C>T rs2071148
NM_000199.5(SGSH):c.*415A>G
NM_000199.5(SGSH):c.*833A>G rs2012452
NM_000199.5(SGSH):c.*840A>G rs709678
NM_000199.5(SGSH):c.*848C>G rs709677
NM_000199.5(SGSH):c.*855T>C rs1046832
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile) rs58786455
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile) rs34297805
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034
NM_000199.5(SGSH):c.675C>T (p.Phe225=) rs34520362
NM_000199.5(SGSH):c.746-4A>G rs7218267

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