ClinVar Miner

List of variants in gene SGSH reported as benign for not provided

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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.250-26C>T rs4889839 0.54568
NM_000199.5(SGSH):c.949+228C>T rs2269374 0.52284
NM_000199.5(SGSH):c.88+194A>G rs4889841 0.48998
NM_000199.5(SGSH):c.250-72G>A rs4889840 0.46739
NM_000199.5(SGSH):c.663+17T>C rs6565647 0.46516
NM_000199.5(SGSH):c.507-129G>A rs6565648 0.31684
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.746-4A>G rs7218267 0.04487
NM_000199.5(SGSH):c.950-295A>G rs74000619 0.04389
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.1182G>T (p.Met394Ile) rs34297805 0.01381
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly) rs113641837 0.00359
NM_000199.5(SGSH):c.950-93G>A rs186827026 0.00063
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.664-39_664-38del rs34029730
NM_000199.5(SGSH):c.88+23C>G rs77032342

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