ClinVar Miner

List of variants in gene NAGLU reported as likely pathogenic for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795 0.00004
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469 0.00002
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) rs796052122 0.00001
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter) rs527236038 0.00001
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478 0.00001
NM_000263.4(NAGLU):c.418T>A (p.Tyr140Asn) rs2092909557 0.00001
NM_000263.4(NAGLU):c.701G>A (p.Arg234His) rs886042073 0.00001
NC_000017.10:g.(?_40690337)_(40690793_?)dup
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser) rs768918822
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu) rs753454744
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr) rs1599260473
NM_000263.4(NAGLU):c.1172A>G (p.Tyr391Cys)
NM_000263.4(NAGLU):c.1207A>T (p.Ile403Phe)
NM_000263.4(NAGLU):c.1224C>A (p.His408Gln)
NM_000263.4(NAGLU):c.1277G>C (p.Gly426Ala) rs771151036
NM_000263.4(NAGLU):c.1304A>C (p.Asn435Thr) rs764815033
NM_000263.4(NAGLU):c.1364A>C (p.Tyr455Ser)
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln) rs200909691
NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro)
NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val)
NM_000263.4(NAGLU):c.1682T>C (p.Leu561Pro) rs2092928624
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro) rs144238669
NM_000263.4(NAGLU):c.1810C>T (p.Pro604Ser) rs1347224658
NM_000263.4(NAGLU):c.1946G>C (p.Trp649Ser)
NM_000263.4(NAGLU):c.2021G>T (p.Arg674Leu)
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val) rs1567894363
NM_000263.4(NAGLU):c.2171_2172del (p.Val724fs) rs2143116788
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp) rs2092906798
NM_000263.4(NAGLU):c.344C>T (p.Pro115Leu) rs1379877908
NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys)
NM_000263.4(NAGLU):c.418T>C (p.Tyr140His)
NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser)
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp) rs746876753
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.482G>A (p.Gly161Asp)
NM_000263.4(NAGLU):c.531+1G>A rs1245939928
NM_000263.4(NAGLU):c.532-1G>A rs2143086378
NM_000263.4(NAGLU):c.532-1G>C rs2143086378
NM_000263.4(NAGLU):c.638C>T (p.Pro213Leu)
NM_000263.4(NAGLU):c.700C>G (p.Arg234Gly) rs104894601
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu) rs886042073
NM_000263.4(NAGLU):c.764+2T>C
NM_000263.4(NAGLU):c.833C>T (p.Ser278Phe)
NM_000263.4(NAGLU):c.875G>A (p.Gly292Glu) rs1209988199
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val) rs1599258487
NM_000263.4(NAGLU):c.925T>C (p.Tyr309His) rs2143099180
NM_000263.4(NAGLU):c.926A>T (p.Tyr309Phe) rs1305299665
NM_000263.4(NAGLU):c.934G>C (p.Asp312His)
NM_000263.4(NAGLU):c.935A>C (p.Asp312Ala)
NM_000263.4(NAGLU):c.940T>G (p.Phe314Val) rs104894600
NM_000263.4(NAGLU):c.941T>C (p.Phe314Ser) rs1181487342

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