ClinVar Miner

List of variants in gene SGSH reported as likely benign for not specified

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
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.1337A>G (p.His446Arg) rs148876719 0.00172
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000199.5(SGSH):c.507-7C>T rs200965114 0.00056
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.222C>T (p.Arg74=) rs768056322
NM_000199.5(SGSH):c.664-39_664-38del rs34029730

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