ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) rs748830051 0.00002
NM_000404.4(GLB1):c.145C>T (p.Arg49Cys) rs72555358 0.00001
NM_000404.4(GLB1):c.1768C>T (p.Arg590Cys) rs794727165 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.1077del (p.Val360fs) rs727503952
NM_000404.4(GLB1):c.1122T>G (p.Tyr374Ter)
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.545C>G (p.Thr182Arg) rs758577863
NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)
NM_000404.4(GLB1):c.569G>T (p.Gly190Val)
NM_000404.4(GLB1):c.65_75+1del rs1382394474
NM_001039770.3(TMPPE):c.-398_-397del

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