ClinVar Miner

List of variants in gene GLB1 studied for GM1 gangliosidosis type 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg) rs4302331 0.93112
NM_000404.4(GLB1):c.955+60A>G rs12632196 0.75289
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_000404.4(GLB1):c.76-4426C>T rs9865342 0.11155
NM_000404.4(GLB1):c.458-11T>C rs34204221 0.10591
NM_000404.4(GLB1):c.734-112T>C rs80059915 0.07289
NM_000404.4(GLB1):c.734-80G>A rs75639377 0.05351
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_000404.4(GLB1):c.1824G>C (p.Leu608=) rs77226678 0.01441
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) rs180869784 0.00116
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys) rs371397760 0.00095
NM_000404.4(GLB1):c.1426C>T (p.Leu476=) rs113534264 0.00083
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys) rs72555366 0.00012
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp) rs201807974 0.00011
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355 0.00008
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln) rs780634117 0.00006
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.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.2016A>G (p.Ser672=) rs756403702 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.734-8A>G rs398123357 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.1445G>A (p.Arg482His) rs72555391 0.00002
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881 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.858C>T (p.Thr286=) rs770638519 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.1369C>T (p.Arg457Ter) rs72555359 0.00001
NM_000404.4(GLB1):c.1370G>A (p.Arg457Gln) rs28934886 0.00001
NM_000404.4(GLB1):c.1438A>G (p.Met480Val) rs1280400930 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.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.188T>A (p.Phe63Tyr) rs1228819238 0.00001
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter) rs758168173 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.797A>G (p.Asn266Ser) rs1214295886 0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785 0.00001
NM_000404.2(GLB1):c.1069_1233dup
NM_000404.2:c.672_673delAT
NM_000404.3(GLB1):c.[245C>T];[367G>A]
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro) rs752177002
NM_000404.4(GLB1):c.1023_1024del (p.Asp342fs)
NM_000404.4(GLB1):c.1027C>T (p.Leu343Phe)
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1071_1073delinsGG (p.Phe357fs)
NM_000404.4(GLB1):c.1077del (p.Val360fs) rs727503952
NM_000404.4(GLB1):c.1099C>T (p.Pro367Ser) rs1697636883
NM_000404.4(GLB1):c.1122T>A (p.Tyr374Ter)
NM_000404.4(GLB1):c.1122T>G (p.Tyr374Ter)
NM_000404.4(GLB1):c.1142del (p.Lys381fs) rs2125478934
NM_000404.4(GLB1):c.1144-2A>G rs1553607014
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1188dup (p.Pro397fs) rs587779403
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro) rs72555369
NM_000404.4(GLB1):c.1233+1G>A rs1553606984
NM_000404.4(GLB1):c.1233+91G>C rs2125474421
NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs) rs1697335361
NM_000404.4(GLB1):c.130G>T (p.Asp44Tyr)
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) rs202237232
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.4(GLB1):c.1312G>T (p.Gly438Ter) rs1697334156
NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) rs72555367
NM_000404.4(GLB1):c.1318C>T (p.His440Tyr) rs1575414831
NM_000404.4(GLB1):c.1379_1380del (p.Val460fs)
NM_000404.4(GLB1):c.1421A>G (p.Asp474Gly)
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.1465_1466del (p.Ile489fs) rs2125466937
NM_000404.4(GLB1):c.1500_1503del (p.Leu501fs) rs1553606130
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs) rs1553606128
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.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter) rs1553606091
NM_000404.4(GLB1):c.1634dup (p.Asn545fs) rs754131566
NM_000404.4(GLB1):c.1658T>C (p.Met553Thr) rs2125463098
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.1768C>A (p.Arg590Ser) rs794727165
NM_000404.4(GLB1):c.1784G>A (p.Arg595Gln) rs199694629
NM_000404.4(GLB1):c.1978A>T (p.Arg660Ter) rs1553604682
NM_000404.4(GLB1):c.1991del (p.Pro664fs) rs1553604677
NM_000404.4(GLB1):c.2007_2010del (p.Asn669fs) rs1553604656
NM_000404.4(GLB1):c.2010dup (p.Asp671fs) rs1165249729
NM_000404.4(GLB1):c.2011del (p.Asp671fs) rs1553604655
NM_000404.4(GLB1):c.2032T>C (p.Ter678Arg) rs1553604645
NM_000404.4(GLB1):c.2034A>C (p.Ter678Cys) rs1553604644
NM_000404.4(GLB1):c.230_231del (p.Leu77fs)
NM_000404.4(GLB1):c.245+1G>C rs778423653
NM_000404.4(GLB1):c.246-17_246-3del rs2125548864
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys) rs1553612220
NM_000404.4(GLB1):c.256_278dup (p.Gln95fs) rs587776524
NM_000404.4(GLB1):c.266A>T (p.His89Leu) rs2125548832
NM_000404.4(GLB1):c.302del (p.Asp101fs) rs1553612213
NM_000404.4(GLB1):c.385G>C (p.Glu129Gln) rs886042079
NM_000404.4(GLB1):c.395T>C (p.Met132Thr) rs1553612189
NM_000404.4(GLB1):c.401G>T (p.Gly134Val) rs773562141
NM_000404.4(GLB1):c.407C>T (p.Pro136Leu) rs1575471281
NM_000404.4(GLB1):c.416T>A (p.Leu139Gln) rs1699766499
NM_000404.4(GLB1):c.425_426del (p.Lys142fs) rs1553612150
NM_000404.4(GLB1):c.425_428del (p.Lys142fs) rs1699765928
NM_000404.4(GLB1):c.433_437del (p.Ile145fs) rs1553612145
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe) rs1553612143
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.451G>T (p.Asp151Tyr) rs375582374
NM_000404.4(GLB1):c.487_488del (p.Gly163fs)
NM_000404.4(GLB1):c.495_497del (p.Leu166del) rs754077128
NM_000404.4(GLB1):c.500_501del (p.Pro167fs)
NM_000404.4(GLB1):c.501C>T (p.Pro167=) rs1553611799
NM_000404.4(GLB1):c.523C>T (p.Gln175Ter) rs1553611789
NM_000404.4(GLB1):c.545C>G (p.Thr182Arg) rs758577863
NM_000404.4(GLB1):c.552+2T>C rs1553611778
NM_000404.4(GLB1):c.553-2A>T rs2125533195
NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)
NM_000404.4(GLB1):c.569G>T (p.Gly190Val)
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn) rs1553611055
NM_000404.4(GLB1):c.591dup (p.Asp198Ter) rs2125533127
NM_000404.4(GLB1):c.626del (p.His209fs) rs1553611044
NM_000404.4(GLB1):c.645_648del (p.Val216fs) rs1553611040
NM_000404.4(GLB1):c.694dup (p.Ala232fs) rs1553611025
NM_000404.4(GLB1):c.733+1G>A rs1041204916
NM_000404.4(GLB1):c.733+2_733+4del rs1553611016
NM_000404.4(GLB1):c.733+78A>G rs77452319
NM_000404.4(GLB1):c.734-99G>T rs72856120
NM_000404.4(GLB1):c.739A>G (p.Asn247Asp)
NM_000404.4(GLB1):c.765G>C (p.Gln255His) rs1553610553
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.775G>T (p.Glu259Ter) rs1699086565
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000404.4(GLB1):c.808T>C (p.Tyr270His) rs376663785
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.821T>C (p.Leu274Pro) rs1699012933
NM_000404.4(GLB1):c.835del (p.Gln279fs)
NM_000404.4(GLB1):c.846del (p.Thr283fs) rs1553610382
NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter) rs1699002261
NM_000404.4(GLB1):c.922T>C (p.Phe308Leu) rs587779404
NM_000404.4(GLB1):c.93G>A (p.Met31Ile) rs1553612598
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) rs72555361
NM_000404.4(GLB1):c.950G>A (p.Trp317Ter) rs1575451526
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) rs977975596

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