ClinVar Miner

List of variants in gene NAGLU reported as likely pathogenic for not provided

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795 0.00004
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00002
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) rs796052122 0.00001
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594 0.00001
NM_000263.4(NAGLU):c.928G>A (p.Gly310Arg) rs1480640960 0.00001
NM_000263.4(NAGLU):c.1182del (p.Ala395fs)
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys) rs777670507
NM_000263.4(NAGLU):c.1291dup (p.Arg431fs) rs2092926516
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln) rs200909691
NM_000263.4(NAGLU):c.1498_1517del (p.Ser500fs)
NM_000263.4(NAGLU):c.1610T>C (p.Phe537Ser)
NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro)
NM_000263.4(NAGLU):c.1675G>A (p.Asp559Asn) rs767510451
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.1915delinsTT (p.Glu639fs)
NM_000263.4(NAGLU):c.2038_2050del (p.Glu680fs)
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) rs747155746
NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly) rs104894601
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073
NM_000263.4(NAGLU):c.942del (p.Phe314fs) rs2143099421

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