ClinVar Miner

List of variants reported as likely pathogenic for GM1 gangliosidosis by Invitae

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln) rs780634117 0.00006
NM_000404.4(GLB1):c.451G>A (p.Asp151Asn) rs375582374 0.00002
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala) rs779023917 0.00002
NM_000404.4(GLB1):c.161G>A (p.Ser54Asn) rs143423935 0.00001
NM_000404.4(GLB1):c.380G>T (p.Cys127Phe) rs1699791081 0.00001
NM_000404.4(GLB1):c.517C>G (p.Leu173Val) rs1303774639 0.00001
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys) rs371546950 0.00001
NM_000404.4(GLB1):c.1009C>G (p.Leu337Val) rs376034559
NM_000404.4(GLB1):c.1060A>G (p.Ile354Val)
NM_000404.4(GLB1):c.1188_1189delinsCT (p.Pro397Ser)
NM_000404.4(GLB1):c.1234-1G>T
NM_000404.4(GLB1):c.1256G>C (p.Arg419Pro)
NM_000404.4(GLB1):c.1258A>G (p.Thr420Ala) rs200181401
NM_000404.4(GLB1):c.1347+1G>T
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1468_1470del (p.Asn490del) rs1215113920
NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn) rs1172435886
NM_000404.4(GLB1):c.148T>C (p.Tyr50His)
NM_000404.4(GLB1):c.1498A>T (p.Thr500Ser)
NM_000404.4(GLB1):c.151A>C (p.Ile51Leu)
NM_000404.4(GLB1):c.160A>G (p.Ser54Gly)
NM_000404.4(GLB1):c.1645C>T (p.Pro549Ser) rs2125463133
NM_000404.4(GLB1):c.1660G>A (p.Gly554Arg)
NM_000404.4(GLB1):c.1667T>C (p.Phe556Ser)
NM_000404.4(GLB1):c.1685dup (p.Asp564fs) rs1697138071
NM_000404.4(GLB1):c.1739A>G (p.Gln580Arg) rs2125442981
NM_000404.4(GLB1):c.1742T>G (p.Val581Gly)
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser) rs794727165
NM_000404.4(GLB1):c.1768C>G (p.Arg590Gly)
NM_000404.4(GLB1):c.176G>T (p.Arg59Leu) rs72555392
NM_000404.4(GLB1):c.1771T>C (p.Tyr591His)
NM_000404.4(GLB1):c.1772A>C (p.Tyr591Ser) rs72555371
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys) rs759483184
NM_000404.4(GLB1):c.2009_2010del (p.Lys670fs)
NM_000404.4(GLB1):c.202C>G (p.Arg68Gly) rs72555370
NM_000404.4(GLB1):c.203G>T (p.Arg68Leu) rs572237881
NM_000404.4(GLB1):c.319T>C (p.Phe107Leu) rs397515616
NM_000404.4(GLB1):c.396+2T>C rs1057517738
NM_000404.4(GLB1):c.435TCT[1] (p.Leu147del) rs751033858
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe) rs1553612143
NM_000404.4(GLB1):c.443G>T (p.Arg148Leu)
NM_000404.4(GLB1):c.457+2T>C rs398123354
NM_000404.4(GLB1):c.517C>T (p.Leu173Phe)
NM_000404.4(GLB1):c.520T>G (p.Tyr174Asp)
NM_000404.4(GLB1):c.521A>C (p.Tyr174Ser) rs2125543580
NM_000404.4(GLB1):c.552+2T>C rs1553611778
NM_000404.4(GLB1):c.572G>C (p.Ser191Thr)
NM_000404.4(GLB1):c.572G>T (p.Ser191Ile)
NM_000404.4(GLB1):c.76-1G>T
NM_000404.4(GLB1):c.765G>C (p.Gln255His) rs1553610553
NM_000404.4(GLB1):c.765G>T (p.Gln255His)
NM_000404.4(GLB1):c.827A>C (p.His276Pro) rs1559401406
NM_000404.4(GLB1):c.842A>G (p.His281Arg)
NM_000404.4(GLB1):c.915-1G>T rs749020375
NM_000404.4(GLB1):c.915-2A>G
NM_000404.4(GLB1):c.932G>A (p.Gly311Glu)
NM_000404.4(GLB1):c.937A>G (p.Asn313Asp)
NM_000404.4(GLB1):c.955+2T>G rs746883447
NM_000404.4(GLB1):c.971A>C (p.Tyr324Ser)
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) rs977975596

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