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: 22
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp) rs74000629 0.00143
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00097
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639 0.00066
NM_000199.5(SGSH):c.324G>A (p.Pro108=) rs147938702 0.00060
NM_000199.5(SGSH):c.1062C>T (p.Ala354=) rs150750383 0.00010
NM_000199.5(SGSH):c.1104C>T (p.His368=) rs111800668 0.00008
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908 0.00006
NM_000199.5(SGSH):c.840C>T (p.Ser280=) rs146904798 0.00006
NM_000199.5(SGSH):c.909A>G (p.Lys303=) rs746617014 0.00004
NM_000199.5(SGSH):c.117G>A (p.Ala39=) rs201132655 0.00003
NM_000199.5(SGSH):c.936C>T (p.Tyr312=) rs147716878 0.00003
NM_000199.5(SGSH):c.1323G>C (p.Arg441=) rs202209795 0.00001
NM_000199.5(SGSH):c.1443C>T (p.Cys481=) rs747742566 0.00001
NM_000199.5(SGSH):c.1452C>T (p.Asp484=) rs763360021 0.00001
NM_000199.5(SGSH):c.384G>A (p.Pro128=) rs770944273 0.00001
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202 0.00001
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.1338C>T (p.His446=) rs762208419
NM_000199.5(SGSH):c.1449C>T (p.Pro483=) rs779836312
NM_000199.5(SGSH):c.282C>T (p.Asp94=) rs748857638
NM_000199.5(SGSH):c.540C>A (p.Pro180=) rs749721134

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