ClinVar Miner

List of variants reported as likely pathogenic for GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis by Fulgent Genetics, Fulgent Genetics

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Total variants: 38
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HGVS dbSNP gnomAD frequency
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.1769G>A (p.Arg590His) rs398123351 0.00003
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) rs572237881 0.00003
NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys) rs748345527 0.00001
NM_000404.4(GLB1):c.1324C>T (p.Arg442Ter) rs2125469895 0.00001
NM_000404.4(GLB1):c.1438A>G (p.Met480Val) rs1280400930 0.00001
NM_000404.4(GLB1):c.380G>T (p.Cys127Phe) rs1699791081 0.00001
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233 0.00001
NM_000404.4(GLB1):c.716C>T (p.Thr239Met) rs746766232 0.00001
NM_000404.4(GLB1):c.931G>A (p.Gly311Arg) rs368568171 0.00001
NM_000404.4(GLB1):c.1147A>T (p.Lys383Ter) rs1559385963
NM_000404.4(GLB1):c.1242del (p.Phe415fs)
NM_000404.4(GLB1):c.1347+1G>T rs757256051
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.146G>C (p.Arg49Pro) rs780523881
NM_000404.4(GLB1):c.1471G>T (p.Asp491Tyr)
NM_000404.4(GLB1):c.1792C>T (p.Gln598Ter)
NM_000404.4(GLB1):c.1823T>C (p.Leu608Pro)
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys) rs759483184
NM_000404.4(GLB1):c.1991del (p.Pro664fs) rs1553604677
NM_000404.4(GLB1):c.288C>G (p.Tyr96Ter)
NM_000404.4(GLB1):c.289C>T (p.Gln97Ter)
NM_000404.4(GLB1):c.29dup (p.Leu11fs)
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu) rs397515616
NM_000404.4(GLB1):c.435_436delinsA (p.Leu146fs)
NM_000404.4(GLB1):c.442C>A (p.Arg148Ser) rs192732174
NM_000404.4(GLB1):c.462C>G (p.Tyr154Ter)
NM_000404.4(GLB1):c.468del (p.Ala157fs)
NM_000404.4(GLB1):c.47del (p.Leu16fs)
NM_000404.4(GLB1):c.488dup (p.Val164fs)
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.597_598del (p.Leu200fs)
NM_000404.4(GLB1):c.710A>G (p.Tyr237Cys) rs2471397544
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.819G>A (p.Trp273Ter) rs1378338444
NM_000404.4(GLB1):c.955+2T>G rs746883447

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