ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 151
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HGVS dbSNP gnomAD frequency
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.889C>T (p.Arg297Ter) rs104894592 0.00010
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.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.1004A>G (p.Tyr335Cys) rs768918822 0.00001
NM_000263.4(NAGLU):c.1081T>C (p.Trp361Arg) rs766000735 0.00001
NM_000263.4(NAGLU):c.1162C>T (p.Gln388Ter) rs879111128 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.1487T>C (p.Leu496Pro) rs569519789 0.00001
NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val) rs1353058781 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.1949G>A (p.Gly650Glu) rs527236037 0.00001
NM_000263.4(NAGLU):c.1973A>G (p.Tyr658Cys) rs1230894568 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.432G>A (p.Trp144Ter) rs748042028 0.00001
NM_000263.4(NAGLU):c.607C>T (p.Arg203Ter) rs1279412522 0.00001
NM_000263.4(NAGLU):c.694C>T (p.Gln232Ter) rs886043792 0.00001
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601 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.(?_40688281)_(40693234_?)del
NC_000017.10:g.(?_40689396)_(40690793_?)del
NC_000017.10:g.(?_40690337)_(40690793_?)del
NC_000017.10:g.(?_40690347)_(40690783_?)del
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter) rs376090795
NM_000263.4(NAGLU):c.1022-2A>G
NM_000263.4(NAGLU):c.1025del (p.Asp342fs)
NM_000263.4(NAGLU):c.1041G>A (p.Trp347Ter)
NM_000263.4(NAGLU):c.1063C>T (p.Gln355Ter)
NM_000263.4(NAGLU):c.1063del (p.Gln355fs) rs1180591588
NM_000263.4(NAGLU):c.1083G>T (p.Trp361Cys)
NM_000263.4(NAGLU):c.1088_1089dup (p.Ala364fs)
NM_000263.4(NAGLU):c.1093C>T (p.Gln365Ter) rs1555622242
NM_000263.4(NAGLU):c.1163_1166dup (p.Val390fs) rs2092925958
NM_000263.4(NAGLU):c.1173dup (p.Thr392fs) rs2143108228
NM_000263.4(NAGLU):c.1177del (p.Arg393fs)
NM_000263.4(NAGLU):c.1211G>A (p.Trp404Ter) rs904672363
NM_000263.4(NAGLU):c.1238del (p.Asn413fs)
NM_000263.4(NAGLU):c.1288_1289del (p.Ala430fs) rs2092926507
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys) rs114625063
NM_000263.4(NAGLU):c.1336del (p.Glu446fs) rs2143109467
NM_000263.4(NAGLU):c.1337A>G (p.Glu446Gly)
NM_000263.4(NAGLU):c.1348C>T (p.Gln450Ter)
NM_000263.4(NAGLU):c.1364A>G (p.Tyr455Cys) rs375103824
NM_000263.4(NAGLU):c.1425del (p.Thr476fs) rs1250949842
NM_000263.4(NAGLU):c.1453dup (p.Val485fs) rs749338526
NM_000263.4(NAGLU):c.1460dup (p.His487fs) rs2143110493
NM_000263.4(NAGLU):c.1482G>A (p.Trp494Ter)
NM_000263.4(NAGLU):c.1498_1517del (p.Ser500fs)
NM_000263.4(NAGLU):c.1570C>T (p.Gln524Ter) rs2143111795
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>T (p.Asp559Tyr)
NM_000263.4(NAGLU):c.1682T>G (p.Leu561Arg) rs2092928624
NM_000263.4(NAGLU):c.1690_1693del (p.Thr564fs)
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.1696C>T (p.Gln566Ter)
NM_000263.4(NAGLU):c.1773del (p.Leu591_Leu592insTer) rs2143113566
NM_000263.4(NAGLU):c.1815_1821dup (p.Glu608fs) rs2143113857
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter) rs1555622488
NM_000263.4(NAGLU):c.1874_1883del (p.Ala625fs)
NM_000263.4(NAGLU):c.1914C>G (p.Tyr638Ter)
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000263.4(NAGLU):c.1918C>T (p.Gln640Ter)
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593
NM_000263.4(NAGLU):c.1933C>T (p.Gln645Ter)
NM_000263.4(NAGLU):c.1944dup (p.Trp649fs) rs886039895
NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu) rs527236038
NM_000263.4(NAGLU):c.2038G>T (p.Glu680Ter)
NM_000263.4(NAGLU):c.2045T>G (p.Leu682Arg) rs2092930339
NM_000263.4(NAGLU):c.2062C>T (p.Gln688Ter) rs1195831432
NM_000263.4(NAGLU):c.2066del (p.Gly689fs)
NM_000263.4(NAGLU):c.2080C>T (p.Gln694Ter)
NM_000263.4(NAGLU):c.2099del (p.Asn700fs)
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) rs1364203992
NM_000263.4(NAGLU):c.291T>G (p.Cys97Trp) rs2092906798
NM_000263.4(NAGLU):c.295_298del (p.Cys99fs)
NM_000263.4(NAGLU):c.308G>A (p.Trp103Ter) rs2092906864
NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter) rs1567890328
NM_000263.4(NAGLU):c.317_323del (p.Ser106fs) rs2143077277
NM_000263.4(NAGLU):c.320dup (p.Leu108fs)
NM_000263.4(NAGLU):c.329dup (p.Pro111fs)
NM_000263.4(NAGLU):c.333_344del (p.Arg112_Pro115del)
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser) rs758785463
NM_000263.4(NAGLU):c.358G>T (p.Glu120Ter) rs1445294968
NM_000263.4(NAGLU):c.367G>T (p.Glu123Ter) rs796052123
NM_000263.4(NAGLU):c.387C>G (p.Tyr129Ter) rs1453761645
NM_000263.4(NAGLU):c.408C>A (p.Cys136Ter)
NM_000263.4(NAGLU):c.410_413del (p.Thr137fs) rs1460796923
NM_000263.4(NAGLU):c.441G>A (p.Trp147Ter) rs2143082104
NM_000263.4(NAGLU):c.446del (p.Arg149fs)
NM_000263.4(NAGLU):c.449G>A (p.Trp150Ter)
NM_000263.4(NAGLU):c.454C>T (p.Arg152Ter) rs1261241939
NM_000263.4(NAGLU):c.457G>A (p.Glu153Lys) rs1352416909
NM_000263.4(NAGLU):c.457G>T (p.Glu153Ter)
NM_000263.4(NAGLU):c.480del (p.Asn160fs) rs886039894
NM_000263.4(NAGLU):c.490del (p.Leu164fs)
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.512dup (p.Glu172fs)
NM_000263.4(NAGLU):c.525G>A (p.Trp175Ter) rs2143082538
NM_000263.4(NAGLU):c.531+1G>C
NM_000263.4(NAGLU):c.595del (p.Leu199fs)
NM_000263.4(NAGLU):c.603G>A (p.Trp201Ter) rs2143086665
NM_000263.4(NAGLU):c.623_626dup (p.Trp210fs) rs2143086826
NM_000263.4(NAGLU):c.640dup (p.Leu214fs) rs2143086910
NM_000263.4(NAGLU):c.641del (p.Leu214fs)
NM_000263.4(NAGLU):c.642dup (p.Pro215fs) rs2092912932
NM_000263.4(NAGLU):c.648del (p.Ser217fs) rs760370189
NM_000263.4(NAGLU):c.648dup (p.Ser217fs) rs760370189
NM_000263.4(NAGLU):c.654G>A (p.Trp218Ter)
NM_000263.4(NAGLU):c.676C>T (p.Gln226Ter)
NM_000263.4(NAGLU):c.678+1G>A rs2143087145
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073
NM_000263.4(NAGLU):c.710_714dup (p.Thr239delinsAlaTer)
NM_000263.4(NAGLU):c.713del (p.Met238fs) rs2143088088
NM_000263.4(NAGLU):c.736_748dup (p.Pro250fs)
NM_000263.4(NAGLU):c.741del (p.His248fs)
NM_000263.4(NAGLU):c.809del (p.His270fs) rs1555622002
NM_000263.4(NAGLU):c.814_820dup (p.Ser274Ter)
NM_000263.4(NAGLU):c.820del (p.Ser274fs) rs1452185692
NM_000263.4(NAGLU):c.867del (p.Ile290fs) rs1555622019
NM_000263.4(NAGLU):c.886del (p.Leu296fs) rs752131463
NM_000263.4(NAGLU):c.902_903del (p.Lys301fs) rs2092920511
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val) rs1599258487
NM_000263.4(NAGLU):c.926A>G (p.Tyr309Cys) rs1305299665
NM_000263.4(NAGLU):c.953_957del (p.Gln318fs) rs2143099555
NM_000263.4(NAGLU):c.956C>T (p.Pro319Leu)
NM_000263.4(NAGLU):c.978C>A (p.Tyr326Ter)
NM_000263.4(NAGLU):c.998_1014del (p.Ala333fs)

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