ClinVar Miner

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

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.531+157G>A rs147296829 0.01491
NM_000263.4(NAGLU):c.384-284A>C rs79217463 0.01433
NC_000017.11:g.42535722G>T rs115776379 0.01371
NM_000263.3(NAGLU):c.-200G>C rs114904267 0.01366
NM_000263.4(NAGLU):c.764+19C>G rs77738617 0.01306
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529 0.00469
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595 0.00455
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00237
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014 0.00190
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665 0.00063
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965 0.00041
NM_000263.4(NAGLU):c.723G>A (p.Val241=) rs140945842 0.00010
NM_000263.4(NAGLU):c.1905C>T (p.Ala635=) rs138324133 0.00009
NM_000263.4(NAGLU):c.2055T>C (p.Ser685=) rs750078603 0.00002
NM_000263.4(NAGLU):c.732A>G (p.Ala244=) rs200729468 0.00002
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152 0.00001
NM_000263.4(NAGLU):c.909T>C (p.Phe303=) rs140386564 0.00001
NM_000263.4(NAGLU):c.1614G>A (p.Glu538=)
NM_000263.4(NAGLU):c.1941C>A (p.Thr647=) rs1599262123
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.765-238del rs369880072
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189

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