ClinVar Miner

List of variants in gene NAGLU studied for Mucopolysaccharidosis, MPS-III-B

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Total variants: 116
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HGVS dbSNP
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe) rs749140168
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys) rs768918822
NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter) rs376090795
NM_000263.4(NAGLU):c.1063del (p.Gln355fs) rs1180591588
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu) rs368687817
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)
NM_000263.4(NAGLU):c.1163_1177del (p.Gln388_Thr392del) rs1555622266
NM_000263.4(NAGLU):c.1200del (p.Gln400fs) rs1485628563
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.1241A>G (p.His414Arg) rs768814260
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.4(NAGLU):c.1313T>G (p.Met438Arg) rs1567893399
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys) rs114625063
NM_000263.4(NAGLU):c.1390C>T (p.Arg464Ter) rs138387856
NM_000263.4(NAGLU):c.1395_1397del (p.Lys465_Asp466delinsAsn) rs1555622346
NM_000263.4(NAGLU):c.13_16del (p.Ala5fs) rs1555621402
NM_000263.4(NAGLU):c.1421G>A (p.Trp474Ter) rs1555622351
NM_000263.4(NAGLU):c.1425del (p.Thr476fs) rs1250949842
NM_000263.4(NAGLU):c.142T>C (p.Phe48Leu) rs118204024
NM_000263.4(NAGLU):c.1438_1447del (p.Ala480fs) rs1555622354
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln) rs200909691
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665
NM_000263.4(NAGLU):c.1447dup (p.Tyr483fs) rs778021009
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu) rs104894599
NM_000263.4(NAGLU):c.1463dup (p.Asp489fs) rs1396150639
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.1546C>T (p.Pro516Ser)
NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp) rs992677795
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter) rs1244655820
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp) rs780527821
NM_000263.4(NAGLU):c.1674C>G (p.Tyr558Ter) rs762031686
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp) rs104894597
NM_000263.4(NAGLU):c.1694G>A (p.Arg565Gln) rs104894598
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.1705C>T (p.Gln569Ter) rs1555622441
NM_000263.4(NAGLU):c.1708G>T (p.Glu570Ter) rs1555622443
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro) rs1215582852
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.4(NAGLU):c.1851G>T (p.Leu617Phe) rs1555622482
NM_000263.4(NAGLU):c.1863G>A (p.Trp621Ter) rs1555622488
NM_000263.4(NAGLU):c.1876C>T (p.Arg626Ter) rs104894591
NM_000263.4(NAGLU):c.1893_1903del (p.Glu632fs) rs1555622505
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys) rs104894594
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593
NM_000263.4(NAGLU):c.1932C>G (p.Tyr644Ter) rs1555622533
NM_000263.4(NAGLU):c.193del (p.Tyr65fs) rs1555621432
NM_000263.4(NAGLU):c.1944dup (p.Trp649fs) rs886039895
NM_000263.4(NAGLU):c.1946G>T (p.Trp649Leu) rs527236038
NM_000263.4(NAGLU):c.1949G>A (p.Gly650Glu) rs527236037
NM_000263.4(NAGLU):c.1969G>C (p.Asp657His)
NM_000263.4(NAGLU):c.1995del (p.Leu666fs) rs1555622545
NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys) rs763299645
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla) rs1469781984
NM_000263.4(NAGLU):c.203_205GCG[5] (p.Gly71dup) rs1186888836
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.208G>C (p.Gly70Arg) rs1329159364
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup) rs1555621404
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) rs1364203992
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478
NM_000263.4(NAGLU):c.212_216GCGCG[3] (p.Val75fs) rs1555621442
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter) rs1555622589
NM_000263.4(NAGLU):c.2183_2185AGA[1] (p.Lys729del) rs1216052074
NM_000263.4(NAGLU):c.219_237del (p.Arg74fs) rs1431589133
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.220dup (p.Arg74fs) rs1555621448
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter) rs749371796
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp) rs1555622606
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly)
NM_000263.4(NAGLU):c.257_262dup (p.Ala86_Ala87dup) rs1555621450
NM_000263.4(NAGLU):c.26_31del (p.Ala9_Val10del) rs1555621405
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454
NM_000263.4(NAGLU):c.2T>C (p.Met1Thr) rs1013345784
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.358G>T (p.Glu120Ter) rs1445294968
NM_000263.4(NAGLU):c.370_375del (p.Ala124_Thr125del) rs1555621469
NM_000263.4(NAGLU):c.383+1G>T rs727504028
NM_000263.4(NAGLU):c.384-1G>A rs764134891
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe) rs886043785
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497
NM_000263.4(NAGLU):c.423_425del (p.Phe142del) rs1555621579
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.465_467del (p.Asp155_Trp156delinsGlu) rs1238423614
NM_000263.4(NAGLU):c.480del (p.Asn160fs) rs886039894
NM_000263.4(NAGLU):c.4G>T (p.Glu2Ter) rs1555621397
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.512_514AGG[1] (p.Glu172del) rs1555621605
NM_000263.4(NAGLU):c.531+46_531+75del rs1555621618
NM_000263.4(NAGLU):c.532_533GT[1] (p.Tyr179fs) rs1567891258
NM_000263.4(NAGLU):c.5_10dup (p.Glu2_Ala3dup) rs1555621396
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) rs747155746
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys) rs104894601
NM_000263.4(NAGLU):c.798_805del (p.Ser267fs) rs1555622000
NM_000263.4(NAGLU):c.809del (p.His270fs) rs1555622002
NM_000263.4(NAGLU):c.82del (p.Glu28fs) rs1430122594
NM_000263.4(NAGLU):c.834_837CTTC[1] (p.Leu280fs) rs756865833
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val) rs144771528
NM_000263.4(NAGLU):c.867del (p.Ile290fs) rs1555622019
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000263.4(NAGLU):c.942C>G (p.Phe314Leu) rs118204025

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