ClinVar Miner

List of variants in gene NAGLU reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497 0.99480
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591 0.00013
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp) rs747529593 0.00005
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu) rs368687817 0.00004
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598 0.00004
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053 0.00004
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00002
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 0.00002
NM_000263.4(NAGLU):c.1021+1G>T rs1447465424 0.00001
NM_000263.4(NAGLU):c.1208T>C (p.Ile403Thr) rs796052122 0.00001
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260 0.00001
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009 0.00001
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789 0.00001
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820 0.00001
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro) rs1215582852 0.00001
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594 0.00001
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478 0.00001
NM_000263.4(NAGLU):c.384-1G>A rs764134891 0.00001
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln) rs904118831 0.00001
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601 0.00001
NM_000263.4(NAGLU):c.757G>A (p.Val253Ile) rs764452721 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) rs904672363
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser) rs574688121
NM_000263.4(NAGLU):c.1493T>C (p.Leu498Pro)
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu) rs104894598
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) rs1364203992
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000263.4(NAGLU):c.2214G>A (p.Trp738Ter)
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) rs1445294968
NM_000263.4(NAGLU):c.384-32_384-20dup
NM_000263.4(NAGLU):c.410_413del (p.Thr137fs) rs1460796923
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.503G>A (p.Trp168Ter) rs398123281
NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) rs483352897
NM_000263.4(NAGLU):c.678+1G>A rs2143087145
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) rs747155746
NM_000263.4(NAGLU):c.736G>C (p.Ala246Pro) rs1415169705
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys) rs1305299665

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