ClinVar Miner

List of variants in gene SGSH reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln) rs142599919 0.00093
NM_000199.5(SGSH):c.410C>T (p.Ala137Val) rs367805575 0.00006
NM_000199.5(SGSH):c.1210G>A (p.Val404Ile) rs191465934 0.00005
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val) rs76375023 0.00002
NM_000199.5(SGSH):c.523G>A (p.Val175Ile) rs753921560 0.00002
NM_000199.5(SGSH):c.773G>A (p.Arg258His) rs549606472 0.00002
NM_000199.5(SGSH):c.1190C>T (p.Pro397Leu) rs772080776 0.00001
NM_000199.5(SGSH):c.1244C>G (p.Thr415Ser) rs778602791 0.00001
NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys) rs1453217230 0.00001
NM_000199.5(SGSH):c.440A>G (p.Gln147Arg) rs1408975480 0.00001
NM_000199.5(SGSH):c.896C>T (p.Pro299Leu) rs776306411 0.00001
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys) rs900198526
NM_000199.5(SGSH):c.147C>G (p.His49Gln) rs780614886
NM_000199.5(SGSH):c.329T>A (p.Leu110Gln)
NM_000199.5(SGSH):c.356-3C>G rs1361176382
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys) rs200644359
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741

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