ClinVar Miner

List of variants reported as uncertain significance for GM1 gangliosidosis type 2

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro) rs72555369
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) rs180869784
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile) rs202237232
NM_000404.4(GLB1):c.1438A>G (p.Met480Val) rs1280400930
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) rs72555365
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys) rs1553606400
NM_000404.4(GLB1):c.146G>A (p.Arg49His) rs780523881
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn) rs780232995
NM_000404.4(GLB1):c.1481G>T (p.Gly494Val) rs202007119
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn) rs72555390
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys) rs371397760
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser) rs794727165
NM_000404.4(GLB1):c.1769G>A (p.Arg590His) rs398123351
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys) rs72555371
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp) rs201807974
NM_000404.4(GLB1):c.188T>A (p.Phe63Tyr) rs1228819238
NM_000404.4(GLB1):c.1978A>T (p.Arg660Ter) rs1553604682
NM_000404.4(GLB1):c.1991del (p.Pro664fs) rs1553604677
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter) rs758168173
NM_000404.4(GLB1):c.2007_2010del (p.Asn669fs) rs1553604656
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.203G>A (p.Arg68Gln) rs572237881
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys) rs1553612220
NM_000404.4(GLB1):c.253C>A
NM_000404.4(GLB1):c.335A>C (p.His112Pro) rs753965226
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.446C>T (p.Ser149Phe) rs778700089
NM_000404.4(GLB1):c.495_497del
NM_000404.4(GLB1):c.501C>T (p.Pro167=) rs1553611799
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn) rs1553611055
NM_000404.4(GLB1):c.623G>A (p.Arg208His)
NM_000404.4(GLB1):c.734-8A>G rs398123357
NM_000404.4(GLB1):c.797A>G (p.Asn266Ser) rs1214295886
NM_000404.4(GLB1):c.93G>A (p.Met31Ile) rs1553612598
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) rs977975596

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