List of variants studied for GM1 gangliosidosis type 1 by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000404.4(GLB1):c.75+2dup	rs587776525	0.00021
NM_000404.4(GLB1):c.1769G>A (p.Arg590His)	rs398123351	0.00003
NM_000404.4(GLB1):c.1369C>T (p.Arg457Ter)	rs72555359	0.00001
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro)	rs752177002
NM_000404.4(GLB1):c.1099C>T (p.Pro367Ser)	rs1697636883
NM_000404.4(GLB1):c.1465_1466del (p.Ile489fs)	rs2125466937
NM_000404.4(GLB1):c.246-17_246-3del	rs2125548864
NM_000404.4(GLB1):c.266A>T (p.His89Leu)	rs2125548832
NM_000404.4(GLB1):c.425_428del (p.Lys142fs)	rs1699765928
NM_000404.4(GLB1):c.75+4dup	rs2125591475

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