ClinVar Miner

List of variants in gene NAGLU reported as benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497 0.99496
NM_000263.4(NAGLU):c.531+50G>C rs2071046 0.74381
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294 0.01972
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 0.00463
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) rs61737297 0.00252
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00228
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014 0.00177
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=) rs181021573 0.00063
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965 0.00041
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331 0.00040
NM_000263.4(NAGLU):c.1350G>A (p.Gln450=) rs143689867 0.00019
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152 0.00001
NM_000263.4(NAGLU):c.1021+15T>C rs149434978
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000263.4(NAGLU):c.383+10del rs2510650677
NM_000263.4(NAGLU):c.764+20del rs753375289
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189

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