ClinVar Miner

List of variants in gene NAGLU studied for not provided

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Total variants: 153
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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.1021+120C>T rs630539 0.95964
NM_000263.4(NAGLU):c.531+50G>C rs2071046 0.74899
NM_000263.4(NAGLU):c.532-239G>C rs4792923 0.74884
NM_000263.4(NAGLU):c.532-96A>G rs2676533 0.14585
NM_000263.4(NAGLU):c.765-330T>C rs11871659 0.09948
NM_000263.4(NAGLU):c.679-78G>C rs9915710 0.07490
NM_000263.3(NAGLU):c.-138A>G rs76407245 0.06051
NM_000263.4(NAGLU):c.384-184G>C rs77469759 0.05980
NM_000263.4(NAGLU):c.1022-338C>T rs58486102 0.05975
NM_000263.4(NAGLU):c.1021+174T>C rs57188545 0.05915
NM_000263.4(NAGLU):c.1022-147G>A rs58965285 0.05906
NM_000263.4(NAGLU):c.1021+100C>T rs61661047 0.05836
NC_000017.11:g.42535761C>T rs56976372 0.04257
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294 0.02098
NM_000263.4(NAGLU):c.1021+274G>A rs73983733 0.02024
NM_000263.4(NAGLU):c.531+76A>G rs116738054 0.01540
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.679-21C>T rs77179763 0.00401
NM_000263.3(NAGLU):c.-144G>A rs538885425 0.00263
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) rs61737297 0.00252
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.1438G>A (p.Ala480Thr) rs147293270 0.00087
NM_000263.3(NAGLU):c.-167G>T rs145830042 0.00078
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn) rs114605439 0.00077
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665 0.00063
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.1322C>T (p.Thr441Met) rs138695961 0.00019
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln) rs146456266 0.00017
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970 0.00013
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.723G>A (p.Val241=) rs140945842 0.00010
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr) rs369970264 0.00009
NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr) rs202115696 0.00009
NM_000263.4(NAGLU):c.1905C>T (p.Ala635=) rs138324133 0.00009
NM_000263.4(NAGLU):c.631G>A (p.Asp211Asn) rs145452809 0.00009
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met) rs777479452 0.00009
NM_000263.4(NAGLU):c.593T>A (p.Phe198Tyr) rs752264680 0.00007
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp) rs747529593 0.00005
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795 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.1452G>A (p.Gly484=) rs376593763 0.00003
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590 0.00003
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu) rs750625891 0.00003
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile) rs749140168 0.00002
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.1821C>T (p.Asp607=) rs750401625 0.00002
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645 0.00002
NM_000263.4(NAGLU):c.2055T>C (p.Ser685=) rs750078603 0.00002
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553 0.00002
NM_000263.4(NAGLU):c.732A>G (p.Ala244=) rs200729468 0.00002
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys) rs768918822 0.00001
NM_000263.4(NAGLU):c.1028C>T (p.Thr343Ile) rs1469114327 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.1267G>A (p.Val423Met) rs1237047553 0.00001
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys) rs1183634153 0.00001
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789 0.00001
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met) rs1300652650 0.00001
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152 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.2128C>G (p.Leu710Val) rs371348286 0.00001
NM_000263.4(NAGLU):c.383+1G>T rs727504028 0.00001
NM_000263.4(NAGLU):c.384-10C>G rs772996063 0.00001
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) rs886043792 0.00001
NM_000263.4(NAGLU):c.909T>C (p.Phe303=) rs140386564 0.00001
NM_000263.4(NAGLU):c.928G>A (p.Gly310Arg) rs1480640960 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000263.4(NAGLU):c.1045C>T (p.Leu349Phe)
NM_000263.4(NAGLU):c.1082G>T (p.Trp361Leu) rs753454744
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter) rs1555622242
NM_000263.4(NAGLU):c.1097T>A (p.Ile366Asn)
NM_000263.4(NAGLU):c.1101_1112dup (p.Val373_Pro374insLeuGlyAlaVal)
NM_000263.4(NAGLU):c.1142T>C (p.Leu381Pro) rs2143108019
NM_000263.4(NAGLU):c.1181C>T (p.Thr394Ile)
NM_000263.4(NAGLU):c.1182del (p.Ala395fs)
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys) rs777670507
NM_000263.4(NAGLU):c.1238A>G (p.Asn413Ser)
NM_000263.4(NAGLU):c.1291dup (p.Arg431fs) rs2092926516
NM_000263.4(NAGLU):c.1322C>G (p.Thr441Arg) rs138695961
NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys) rs375103824
NM_000263.4(NAGLU):c.1391G>A (p.Arg464Gln)
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln) rs200909691
NM_000263.4(NAGLU):c.1498_1517del (p.Ser500fs)
NM_000263.4(NAGLU):c.1508A>G (p.Asn503Ser)
NM_000263.4(NAGLU):c.1540C>G (p.Arg514Gly)
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)
NM_000263.4(NAGLU):c.1552del (p.Val518fs) rs2092928057
NM_000263.4(NAGLU):c.1585A>G (p.Ile529Val)
NM_000263.4(NAGLU):c.1610T>C (p.Phe537Ser)
NM_000263.4(NAGLU):c.1614G>A (p.Glu538=)
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=) rs146438251
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=) rs146438251
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.1705C>T (p.Gln569Ter) rs1555622441
NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro) rs144238669
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile) rs759978970
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe) rs764322586
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000263.4(NAGLU):c.1915delinsTT (p.Glu639fs)
NM_000263.4(NAGLU):c.1941C>A (p.Thr647=) rs1599262123
NM_000263.4(NAGLU):c.1980C>A (p.Asn660Lys) rs981984204
NM_000263.4(NAGLU):c.2038_2050del (p.Glu680fs)
NM_000263.4(NAGLU):c.2044C>G (p.Leu682Val) rs1567894363
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg) rs2092930339
NM_000263.4(NAGLU):c.2054G>T (p.Ser685Ile)
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter) rs1195831432
NM_000263.4(NAGLU):c.2132G>A (p.Ser711Asn) rs2092930722
NM_000263.4(NAGLU):c.2150G>C (p.Ser717Thr) rs1014037051
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del) rs1216052074
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.2229G>A (p.Trp743Ter) rs749371796
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser) rs758785463
NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter) rs796052123
NM_000263.4(NAGLU):c.384-3C>A rs1216280532
NM_000263.4(NAGLU):c.418T>C (p.Tyr140His)
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe) rs886043785
NM_000263.4(NAGLU):c.445C>T (p.Arg149Cys)
NM_000263.4(NAGLU):c.446G>T (p.Arg149Leu)
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.612G>T (p.Met204Ile)
NM_000263.4(NAGLU):c.630G>C (p.Trp210Cys)
NM_000263.4(NAGLU):c.648dup (p.Ser217fs) rs760370189
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.736G>C (p.Ala246Pro) rs1415169705
NM_000263.4(NAGLU):c.765-1G>C rs2143097772
NM_000263.4(NAGLU):c.765-238del rs369880072
NM_000263.4(NAGLU):c.765-782A>G
NM_000263.4(NAGLU):c.830_832del (p.Cys277del) rs398123282
NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr)
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000263.4(NAGLU):c.942del (p.Phe314fs) rs2143099421
NM_000263.4(NAGLU):c.944dup (p.Asn315fs) rs797044751

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