ClinVar Miner

List of variants reported as likely pathogenic for GM1 gangliosidosis type 3 by Counsyl

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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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.1321G>A (p.Asp441Asn) rs780724173 0.00002
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) rs756878418 0.00002
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn) rs749980306 0.00001
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358 0.00001
NM_000404.4(GLB1):c.1479+1G>A rs1022476871 0.00001
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala) rs72555368 0.00001
NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter) rs778375259 0.00001
NM_000404.4(GLB1):c.245C>T (p.Thr82Met) rs72555393 0.00001
NM_000404.4(GLB1):c.397-1G>A rs398123353 0.00001
NM_000404.4(GLB1):c.481T>G (p.Trp161Gly) rs398123355 0.00001
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp) rs376663785 0.00001
NM_000404.4(GLB1):c.1038G>C (p.Lys346Asn) rs749980306
NM_000404.4(GLB1):c.1144-2A>G rs1553607014
NM_000404.4(GLB1):c.1174_1175del (p.Leu392fs) rs398123348
NM_000404.4(GLB1):c.1233+1G>A rs1553606984
NM_000404.4(GLB1):c.1456_1466dup (p.Ile489fs) rs398123349
NM_000404.4(GLB1):c.1500_1503del (p.Leu501fs) rs1553606130
NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs) rs1553606128
NM_000404.4(GLB1):c.1609G>T (p.Glu537Ter) rs1553606091
NM_000404.4(GLB1):c.1634dup (p.Asn545fs) rs754131566
NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter) rs1803200
NM_000404.4(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.4(GLB1):c.245+1G>C rs778423653
NM_000404.4(GLB1):c.302del (p.Asp101fs) rs1553612213
NM_000404.4(GLB1):c.425_426del (p.Lys142fs) rs1553612150
NM_000404.4(GLB1):c.433_437del (p.Ile145fs) rs1553612145
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.523C>T (p.Gln175Ter) rs1553611789
NM_000404.4(GLB1):c.552+2T>C rs1553611778
NM_000404.4(GLB1):c.626del (p.His209fs) rs1553611044
NM_000404.4(GLB1):c.645_648del (p.Val216fs) rs1553611040
NM_000404.4(GLB1):c.65_75+1del rs1382394474
NM_000404.4(GLB1):c.694dup (p.Ala232fs) rs1553611025
NM_000404.4(GLB1):c.733+1G>A rs1041204916
NM_000404.4(GLB1):c.733+2_733+4del rs1553611016
NM_000404.4(GLB1):c.765G>C (p.Gln255His) rs1553610553
NM_000404.4(GLB1):c.769_792+13del rs1282958432
NM_000404.4(GLB1):c.947A>G (p.Tyr316Cys) rs72555361

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