ClinVar Miner

List of variants in gene NAGLU reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00237
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270 0.00087
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) rs138695961 0.00019
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789 0.00001
NM_000263.4(NAGLU):c.1322C>G (p.Thr441Arg) rs138695961
NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys) rs375103824
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro) rs144238669
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe) rs886043785
NM_000263.4(NAGLU):c.830_832del (p.Cys277del) rs398123282

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