ClinVar Miner

List of variants in gene NAGLU reported as pathogenic by Counsyl

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Total variants: 9
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HGVS dbSNP
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) rs904672363
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591
NM_000263.4(NAGLU):c.212_216GCGCG[3] (p.Val75fs) rs1555621442
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) rs1445294968
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter) rs398123281
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592

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