ClinVar Miner

List of variants in gene GLB1 reported as pathogenic for Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis

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Gene type:
ClinVar version:
Total variants: 172
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys) rs72555366 0.00012
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355 0.00008
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179 0.00006
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410 0.00006
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360 0.00006
NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys) rs748345527 0.00005
NM_000404.4(GLB1):c.602G>A (p.Arg201His) rs189115557 0.00005
NM_000404.4(GLB1):c.176G>A (p.Arg59His) rs72555392 0.00004
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351 0.00003
NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) rs72555370 0.00003
NM_000404.4(GLB1):c.335A>C (p.His112Pro) rs753965226 0.00003
NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn) rs780724173 0.00002
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val) rs757926581 0.00002
NM_000404.4(GLB1):c.1442G>A (p.Gly481Glu) rs747812191 0.00002
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391 0.00002
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881 0.00002
NM_000404.4(GLB1):c.1580G>A (p.Trp527Ter) rs769781778 0.00002
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418 0.00002
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) rs572237881 0.00002
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) rs748830051 0.00002
NM_000404.4(GLB1):c.716C>T (p.Thr239Met) rs746766232 0.00002
NM_000404.4(GLB1):c.841C>T (p.His281Tyr) rs745386663 0.00002
NM_000404.4(GLB1):c.994G>A (p.Asp332Asn) rs781658798 0.00002
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn) rs749980306 0.00001
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) rs72555372 0.00001
NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp) rs747709527 0.00001
NM_000404.4(GLB1):c.1258A>C (p.Thr420Pro) rs200181401 0.00001
NM_000404.4(GLB1):c.1276T>G (p.Cys426Gly) rs765230559 0.00001
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) rs72555359 0.00001
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) rs28934886 0.00001
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) rs72555365 0.00001
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys) rs1553606400 0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358 0.00001
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn) rs780232995 0.00001
NM_000404.4(GLB1):c.1479+1G>A rs1022476871 0.00001
NM_000404.4(GLB1):c.1480-2A>G rs587776526 0.00001
NM_000404.4(GLB1):c.1481G>T (p.Gly494Val) rs202007119 0.00001
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) rs72555368 0.00001
NM_000404.4(GLB1):c.149A>G (p.Tyr50Cys) rs1207569870 0.00001
NM_000404.4(GLB1):c.1646C>T (p.Pro549Leu) rs776327443 0.00001
NM_000404.4(GLB1):c.1699C>T (p.Gln567Ter) rs1295295164 0.00001
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter) rs778375259 0.00001
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) rs794727165 0.00001
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) rs72555371 0.00001
NM_000404.4(GLB1):c.245+1G>A rs778423653 0.00001
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) rs72555393 0.00001
NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) rs28934274 0.00001
NM_000404.4(GLB1):c.397-1G>A rs398123353 0.00001
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233 0.00001
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe) rs778700089 0.00001
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355 0.00001
NM_000404.4(GLB1):c.569G>A (p.Gly190Asp) rs756575833 0.00001
NM_000404.4(GLB1):c.699del (p.Gln234fs) rs1452318343 0.00001
NM_000404.4(GLB1):c.785G>C (p.Gly262Ala) rs377174858 0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785 0.00001
NM_000404.4(GLB1):c.902C>T (p.Ala301Val) rs750531880 0.00001
NM_000404.4(GLB1):c.931G>A (p.Gly311Arg) rs368568171 0.00001
NC_000003.11:g.(?_33038537)_(33038856_?)del
NC_000003.11:g.(?_33055538)_(33055812_?)del
NC_000003.11:g.(?_33094963)_(33095061_?)del
NC_000003.11:g.(?_33099561)_(33099781_?)del
NC_000003.11:g.(?_33106935)_(33107069_?)del
NC_000003.11:g.(?_33106935)_(33110482_?)del
NC_000003.11:g.(?_33106935)_(33114225_?)del
NC_000003.12:g.(?_33097001)_(33097095_?)del
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro) rs752177002
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1040A>G (p.Tyr347Cys) rs2125514041
NM_000404.4(GLB1):c.1063C>T (p.Gln355Ter)
NM_000404.4(GLB1):c.1077del (p.Val360fs) rs727503952
NM_000404.4(GLB1):c.1142del (p.Lys381fs) rs2125478934
NM_000404.4(GLB1):c.1144-2A>G rs1553607014
NM_000404.4(GLB1):c.1147A>T (p.Lys383Ter)
NM_000404.4(GLB1):c.1147_1148del (p.Lys383fs)
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1191del (p.Ile398fs) rs1559385898
NM_000404.4(GLB1):c.1225del (p.Gln408_Val409insTer)
NM_000404.4(GLB1):c.1231C>T (p.Gln411Ter)
NM_000404.4(GLB1):c.1233+1G>A rs1553606984
NM_000404.4(GLB1):c.1279_1298del (p.Ser427fs)
NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs) rs1697335361
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.4(GLB1):c.1310del (p.Asn437fs) rs2125469935
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) rs72555367
NM_000404.4(GLB1):c.1324C>T (p.Arg442Ter) rs2125469895
NM_000404.4(GLB1):c.1336dup (p.Ala446fs) rs2125469871
NM_000404.4(GLB1):c.1340_1341dup (p.Asp448fs)
NM_000404.4(GLB1):c.1387_1388del (p.Leu463fs)
NM_000404.4(GLB1):c.1388T>C (p.Leu463Pro) rs2125467060
NM_000404.4(GLB1):c.1398_1399del (p.Gly467fs)
NM_000404.4(GLB1):c.1417del (p.Leu473fs)
NM_000404.4(GLB1):c.1441G>T (p.Gly481Ter)
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.1479+1G>C rs1022476871
NM_000404.4(GLB1):c.1491_1492insTTTAAATTTATTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGTCATGGGACNNNNNNNNNNTTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCAGGGTTTGGTTTCTT (p.Ser497_Asn498insPheLysPheIleLeuLeuIleIleLeuGlyCysPheSerGlnArgGlyIleTrpGlnGlyHisGlyThrXaaXaaXaaPheTyrPheLeuArgArgSerLeuAlaLeuLeuSerGlyTrpSerAlaValValGlnSerArgLeuThrAlaThrArgValTrpPheLeu)
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs) rs1553606128
NM_000404.4(GLB1):c.1527G>T (p.Trp509Cys) rs72555363
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn) rs72555390
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) rs72555390
NM_000404.4(GLB1):c.1574_1583del (p.Gly525fs) rs2125463301
NM_000404.4(GLB1):c.1576_1583dup (p.His529fs) rs2125463306
NM_000404.4(GLB1):c.1577del (p.Gly526fs)
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.1582G>T (p.Gly528Ter)
NM_000404.4(GLB1):c.1583del (p.Gly528fs)
NM_000404.4(GLB1):c.1587_1590dup (p.Asp531delinsProTer) rs2125463278
NM_000404.4(GLB1):c.1616G>A (p.Trp539Ter) rs2125463197
NM_000404.4(GLB1):c.1634dup (p.Asn545fs) rs754131566
NM_000404.4(GLB1):c.163del (p.Ile55fs) rs1575475703
NM_000404.4(GLB1):c.1654dup (p.Tyr552fs)
NM_000404.4(GLB1):c.1697C>A (p.Pro566His) rs1575410340
NM_000404.4(GLB1):c.1703A>G (p.Asp568Gly)
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter) rs1803200
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.4(GLB1):c.1728G>A (p.Trp576Ter)
NM_000404.4(GLB1):c.2006dup (p.Asn669fs) rs759633494
NM_000404.4(GLB1):c.245+1G>C rs778423653
NM_000404.4(GLB1):c.246-2A>G rs2125548861
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys) rs1553612220
NM_000404.4(GLB1):c.257G>A (p.Trp86Ter) rs2125548844
NM_000404.4(GLB1):c.304C>G (p.His102Asp)
NM_000404.4(GLB1):c.344del (p.Gly115fs)
NM_000404.4(GLB1):c.397G>T (p.Gly133Ter) rs2125547910
NM_000404.4(GLB1):c.400G>A (p.Gly134Arg)
NM_000404.4(GLB1):c.401G>T (p.Gly134Val) rs773562141
NM_000404.4(GLB1):c.424A>T (p.Lys142Ter) rs776213501
NM_000404.4(GLB1):c.425_428del (p.Lys142fs) rs1699765928
NM_000404.4(GLB1):c.426dup (p.Glu143fs)
NM_000404.4(GLB1):c.433_437del (p.Ile145fs) rs1553612145
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys) rs192732174
NM_000404.4(GLB1):c.452A>T (p.Asp151Val)
NM_000404.4(GLB1):c.473del (p.Val158fs) rs2125543662
NM_000404.4(GLB1):c.482G>A (p.Trp161Ter)
NM_000404.4(GLB1):c.485del (p.Leu162fs)
NM_000404.4(GLB1):c.495_497del (p.Leu166del) rs754077128
NM_000404.4(GLB1):c.514CTC[1] (p.Leu173del)
NM_000404.4(GLB1):c.518T>C (p.Leu173Pro) rs397515617
NM_000404.4(GLB1):c.531_534del (p.Gly178fs) rs1559408259
NM_000404.4(GLB1):c.550C>T (p.Gln184Ter)
NM_000404.4(GLB1):c.552+1G>A
NM_000404.4(GLB1):c.553-1G>C rs1575459735
NM_000404.4(GLB1):c.553-2A>T rs2125533195
NM_000404.4(GLB1):c.560dup (p.Asn187fs)
NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn) rs1553611055
NM_000404.4(GLB1):c.591del (p.Phe197fs)
NM_000404.4(GLB1):c.591dup (p.Asp198Ter) rs2125533127
NM_000404.4(GLB1):c.677del (p.Thr226fs)
NM_000404.4(GLB1):c.694dup (p.Ala232fs) rs1553611025
NM_000404.4(GLB1):c.710A>G (p.Tyr237Cys)
NM_000404.4(GLB1):c.718G>A (p.Val240Met)
NM_000404.4(GLB1):c.733+1G>A rs1041204916
NM_000404.4(GLB1):c.733+2T>C rs1699291583
NM_000404.4(GLB1):c.734-2A>G rs1699088102
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.774T>A (p.Cys258Ter)
NM_000404.4(GLB1):c.785G>A (p.Gly262Glu)
NM_000404.4(GLB1):c.785G>T (p.Gly262Val)
NM_000404.4(GLB1):c.802G>C (p.Glu268Gln)
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu) rs1559401428
NM_000404.4(GLB1):c.819G>A (p.Trp273Ter) rs1378338444
NM_000404.4(GLB1):c.833del (p.Gly278fs)
NM_000404.4(GLB1):c.835C>T (p.Gln279Ter)
NM_000404.4(GLB1):c.846del (p.Thr283fs) rs1553610382
NM_000404.4(GLB1):c.881_882del (p.Leu293_Tyr294insTer) rs767704163
NM_000404.4(GLB1):c.900_903dup (p.Ser302fs) rs1699008262
NM_000404.4(GLB1):c.938A>G (p.Asn313Ser)
NM_000404.4(GLB1):c.955+5G>A
NM_000404.4(GLB1):c.964_965del (p.Ser322fs) rs1698734900
NM_000404.4(GLB1):c.982C>T (p.Pro328Ser) rs1244404381
NM_000404.4(GLB1):c.994_995del (p.Asp332fs)

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