ClinVar Miner

List of variants reported as benign for Mucopolysaccharidosis, MPS-III-A by Natera, Inc.

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Total variants: 19
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HGVS dbSNP gnomAD frequency
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.746-4A>G rs7218267 0.04487
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile) rs58786455 0.02463
NM_000199.5(SGSH):c.249+52G>A rs113672699 0.02447
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211 0.00832
NM_000202.8(IDS):c.465T>A (p.Phe155Leu) rs149210251 0.00829
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_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417 0.00488
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.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877 0.00005
NM_000199.5(SGSH):c.664-39_664-38del rs34029730
NM_000202.8(IDS):c.419-16dup rs781852261
NM_000202.8(IDS):c.419-6del rs781852261
NM_000202.8(IDS):c.709-661del rs1196180401

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