ClinVar Miner

List of variants in gene SGSH studied for not specified

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.250-26C>T rs4889839 0.54568
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.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.411G>A (p.Ala137=) rs142557761 0.00230
NM_000199.5(SGSH):c.1337A>G (p.His446Arg) rs148876719 0.00172
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln) rs142599919 0.00096
NM_000199.5(SGSH):c.507-7C>T rs200965114 0.00056
NM_000199.5(SGSH):c.391G>A (p.Val131Met) rs370636303 0.00003
NM_000199.5(SGSH):c.683A>G (p.Asn228Ser) rs771177142 0.00002
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu) rs745884647 0.00001
NM_000199.5(SGSH):c.1060G>C (p.Ala354Pro)
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.222C>T (p.Arg74=) rs768056322
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr) rs1385318543
NM_000199.5(SGSH):c.664-39_664-36delinsGC rs386799751
NM_000199.5(SGSH):c.664-39_664-38del rs34029730

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