ClinVar Miner

List of variants in gene GLB1 reported as pathogenic for GM1 gangliosidosis type 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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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.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.202C>T (p.Arg68Trp) rs72555370 0.00003
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.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.1646C>T (p.Pro549Leu) rs776327443 0.00001
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) rs794727165 0.00001
NM_000404.4(GLB1):c.245+1G>A rs778423653 0.00001
NM_000404.4(GLB1):c.367G>A (p.Gly123Arg) rs28934274 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.1077del (p.Val360fs) rs727503952
NM_000404.4(GLB1):c.1122T>G (p.Tyr374Ter)
NM_000404.4(GLB1):c.1188dup (p.Pro397fs) rs587779403
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.152T>C (p.Ile51Thr) rs72555390
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
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.395T>C (p.Met132Thr) rs1553612189
NM_000404.4(GLB1):c.425_428del (p.Lys142fs) rs1699765928
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.562G>T (p.Glu188Ter)
NM_000404.4(GLB1):c.591dup (p.Asp198Ter) rs2125533127
NM_000404.4(GLB1):c.846del (p.Thr283fs) rs1553610382
NM_000404.4(GLB1):c.922T>C (p.Phe308Leu) rs587779404
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) rs72555361

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