ClinVar Miner

List of variants in gene NAGLU reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 8
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HGVS dbSNP
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.4(NAGLU):c.383+1G>T rs727504028
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter) rs398123281
NM_000263.4(NAGLU):c.648dup (p.Ser217fs) rs760370189
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) rs886043792
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000263.4(NAGLU):c.944dup (p.Asn315fs) rs797044751

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