ClinVar Miner

List of variants in gene NAGLU reported as likely pathogenic for mucopolysaccharidosis type 3B

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 139
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.1877G>A (p.Arg626Gln) rs376545731 0.00003
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590 0.00003
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.2020C>T (p.Arg674Cys) rs763299645 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.1200del (p.Gln400fs) rs1485628563 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.1277G>A (p.Gly426Asp) rs771151036 0.00001
NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys) rs1183634153 0.00001
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) rs138387856 0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596 0.00001
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009 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.1843C>T (p.Arg615Cys) rs199729746 0.00001
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter) rs527236038 0.00001
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) rs527236037 0.00001
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val) rs746006696 0.00001
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478 0.00001
NM_000263.4(NAGLU):c.383+1G>T rs727504028 0.00001
NM_000263.4(NAGLU):c.384-1G>A rs764134891 0.00001
NM_000263.4(NAGLU):c.418T>A (p.Tyr140Asn) rs2092909557 0.00001
NM_000263.4(NAGLU):c.556C>T (p.Gln186Ter) rs1270564492 0.00001
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) rs886043792 0.00001
NM_000263.4(NAGLU):c.701G>A (p.Arg234His) rs886042073 0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu) rs118204025 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.1006G>T (p.Glu336Ter) rs376090795
NM_000263.4(NAGLU):c.1018del (p.Ala340fs)
NM_000263.4(NAGLU):c.1022-2A>G
NM_000263.4(NAGLU):c.1043T>G (p.Leu348Arg)
NM_000263.4(NAGLU):c.1063del (p.Gln355fs) rs1180591588
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.1112del (p.Gly371fs) rs1555622250
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr) rs1599260473
NM_000263.4(NAGLU):c.1172A>G (p.Tyr391Cys)
NM_000263.4(NAGLU):c.1173dup (p.Thr392fs) rs2143108228
NM_000263.4(NAGLU):c.1207A>T (p.Ile403Phe)
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys) rs777670507
NM_000263.4(NAGLU):c.1224C>A (p.His408Gln)
NM_000263.4(NAGLU):c.1238del (p.Asn413fs)
NM_000263.4(NAGLU):c.1277G>C (p.Gly426Ala) rs771151036
NM_000263.4(NAGLU):c.1310C>T (p.Thr437Ile)
NM_000263.4(NAGLU):c.1313T>G (p.Met438Arg) rs1567893399
NM_000263.4(NAGLU):c.1335del (p.Glu446fs)
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys) rs114625063
NM_000263.4(NAGLU):c.1364A>C (p.Tyr455Ser)
NM_000263.4(NAGLU):c.1421G>A (p.Trp474Ter) rs1555622351
NM_000263.4(NAGLU):c.1425del (p.Thr476fs) rs1250949842
NM_000263.4(NAGLU):c.1438_1447del (p.Ala480fs) rs1555622354
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln) rs200909691
NM_000263.4(NAGLU):c.1463dup (p.Asp489fs) rs1396150639
NM_000263.4(NAGLU):c.1547C>T (p.Pro516Leu)
NM_000263.4(NAGLU):c.1649T>C (p.Leu550Pro)
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter) rs762031686
NM_000263.4(NAGLU):c.1675G>A (p.Asp559Asn) rs767510451
NM_000263.4(NAGLU):c.1681C>G (p.Leu561Val)
NM_000263.4(NAGLU):c.1682T>C (p.Leu561Pro) rs2092928624
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro) rs104894598
NM_000263.4(NAGLU):c.1705C>T (p.Gln569Ter) rs1555622441
NM_000263.4(NAGLU):c.1705dup (p.Gln569fs)
NM_000263.4(NAGLU):c.1708G>T (p.Glu570Ter) rs1555622443
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.1835G>A (p.Ser612Asn)
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter) rs1555622488
NM_000263.4(NAGLU):c.1893_1903del (p.Glu632fs) rs1555622505
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000263.4(NAGLU):c.1915delinsTT (p.Glu639fs)
NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter) rs1555622533
NM_000263.4(NAGLU):c.1946G>C (p.Trp649Ser)
NM_000263.4(NAGLU):c.1978A>G (p.Asn660Asp)
NM_000263.4(NAGLU):c.1995del (p.Leu666fs) rs1555622545
NM_000263.4(NAGLU):c.2020C>A (p.Arg674Ser)
NM_000263.4(NAGLU):c.2021G>T (p.Arg674Leu)
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.2053_2054del (p.Ser685fs) rs1555622559
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter) rs1195831432
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) rs1364203992
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.309G>A (p.Trp103Ter) rs1567890328
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser) rs758785463
NM_000263.4(NAGLU):c.344C>T (p.Pro115Leu) rs1379877908
NM_000263.4(NAGLU):c.381C>G (p.Asn127Lys) rs965226394
NM_000263.4(NAGLU):c.384-3C>A rs1216280532
NM_000263.4(NAGLU):c.388C>T (p.Arg130Cys)
NM_000263.4(NAGLU):c.397del (p.Gln133fs)
NM_000263.4(NAGLU):c.418T>C (p.Tyr140His)
NM_000263.4(NAGLU):c.419A>C (p.Tyr140Ser)
NM_000263.4(NAGLU):c.431G>A (p.Trp144Ter)
NM_000263.4(NAGLU):c.434G>A (p.Trp145Ter) rs2092909726
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys) rs1352416909
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.534_535del (p.Tyr179fs) rs1567891258
NM_000263.4(NAGLU):c.587C>T (p.Pro196Leu) rs1599255987
NM_000263.4(NAGLU):c.629G>A (p.Trp210Ter) rs2092912895
NM_000263.4(NAGLU):c.638C>T (p.Pro213Leu)
NM_000263.4(NAGLU):c.640del (p.Leu214fs)
NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter)
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>T (p.Arg234Leu) rs886042073
NM_000263.4(NAGLU):c.739G>T (p.Gly247Trp)
NM_000263.4(NAGLU):c.764+1G>T
NM_000263.4(NAGLU):c.764+2T>C
NM_000263.4(NAGLU):c.798_805del (p.Ser267fs) rs1555622000
NM_000263.4(NAGLU):c.804G>A (p.Trp268Ter)
NM_000263.4(NAGLU):c.809del (p.His270fs) rs1555622002
NM_000263.4(NAGLU):c.833C>T (p.Ser278Phe)
NM_000263.4(NAGLU):c.838_841del (p.Leu280fs) rs756865833
NM_000263.4(NAGLU):c.867del (p.Ile290fs) rs1555622019
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
NM_000263.4(NAGLU):c.[2020C>T];[680A>C]

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.