ClinVar Miner

List of variants in gene NAGLU reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270 0.00087
NM_000263.4(NAGLU):c.631G>A (p.Asp211Asn) rs145452809 0.00009
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile) rs749140168 0.00002
NM_000263.4(NAGLU):c.1267G>A (p.Val423Met) rs1237047553 0.00001
NM_000263.4(NAGLU):c.1540C>G (p.Arg514Gly)
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=) rs146438251
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val) rs1567894363
NM_000263.4(NAGLU):c.2150G>C (p.Ser717Thr) rs1014037051

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