ClinVar Miner

List of variants in gene SGSH reported as likely benign by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000199.5(SGSH):c.117G>A (p.Ala39=) rs201132655
NM_000199.5(SGSH):c.1323G>C (p.Arg441=) rs202209795
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696
NM_000199.5(SGSH):c.282C>T (p.Asp94=) rs748857638
NM_000199.5(SGSH):c.324G>A (p.Pro108=) rs147938702
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp) rs74000629
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202
NM_000199.5(SGSH):c.936C>T (p.Tyr312=) rs147716878

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