ClinVar Miner

List of variants in gene SGSH reported as benign by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.663+17T>C rs6565647 0.46516
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.701C>G (p.Ala234Gly) rs113641837 0.00359
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.664-39_664-36delinsGC rs386799751

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