List of variants reported as likely pathogenic for GM1 gangliosidosis by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys)	rs72555358	0.00001
NM_000404.3(GLB1):c.[276G>A];[75+5G>C]
NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro)	rs752177002
NM_000404.4(GLB1):c.385G>C (p.Glu129Gln)	rs886042079
NM_000404.4(GLB1):c.3G>A (p.Met1Ile)
NM_000404.4(GLB1):c.407C>T (p.Pro136Leu)	rs1575471281
NM_000404.4(GLB1):c.442C>T (p.Arg148Cys)	rs192732174
NM_000404.4(GLB1):c.569G>T (p.Gly190Val)

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