List of variants reported as likely pathogenic for Infantile GM1 gangliosidosis by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)	rs72555393	0.00001
NM_000404.4(GLB1):c.1071_1073delinsGG (p.Phe357fs)	rs2471279230
NM_000404.4(GLB1):c.515_516del (p.Leu172fs)
NM_000404.4(GLB1):c.65_75+1del	rs1382394474

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