ClinVar Miner

List of variants in gene GLB1 studied for Infantile GM1 gangliosidosis

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Total variants: 80
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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.1426C>T (p.Leu476=) rs113534264 0.00083
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.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.1343A>T (p.Asp448Val) rs757926581 0.00002
NM_000404.4(GLB1):c.1445G>A (p.Arg482His) rs72555391 0.00002
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418 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.1051C>T (p.Arg351Ter) rs72555372 0.00001
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter) rs72555359 0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358 0.00001
NM_000404.4(GLB1):c.1480-2A>G rs587776526 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.1768C>T (p.Arg590Cys) rs794727165 0.00001
NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) rs28934274 0.00001
NM_000404.4(GLB1):c.569G>A (p.Gly190Asp) rs756575833 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.1027C>T (p.Leu343Phe)
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>G (p.Tyr374Ter)
NM_000404.4(GLB1):c.1188dup (p.Pro397fs) rs587779403
NM_000404.4(GLB1):c.1233+91G>C rs2125474421
NM_000404.4(GLB1):c.130G>T (p.Asp44Tyr)
NM_000404.4(GLB1):c.1318C>T (p.His440Tyr) rs1575414831
NM_000404.4(GLB1):c.1421A>G (p.Asp474Gly)
NM_000404.4(GLB1):c.1465_1466del (p.Ile489fs) rs2125466937
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr) rs72555390
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.1658T>C (p.Met553Thr) rs2125463098
NM_000404.4(GLB1):c.1784G>A (p.Arg595Gln) rs199694629
NM_000404.4(GLB1):c.2010dup (p.Asp671fs) rs1165249729
NM_000404.4(GLB1):c.246-17_246-3del rs2125548864
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.385G>C (p.Glu129Gln) rs886042079
NM_000404.4(GLB1):c.395T>C (p.Met132Thr) rs1553612189
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_428del (p.Lys142fs) rs1699765928
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe) rs1553612143
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.495_497del (p.Leu166del) rs754077128
NM_000404.4(GLB1):c.545C>G (p.Thr182Arg) rs758577863
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.591dup (p.Asp198Ter) rs2125533127
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.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.821T>C (p.Leu274Pro) rs1699012933
NM_000404.4(GLB1):c.922T>C (p.Phe308Leu) rs587779404
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) rs72555361
NM_000404.4(GLB1):c.950G>A (p.Trp317Ter) rs1575451526

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