ClinVar Miner

List of variants reported as pathogenic for Hereditary spastic paraplegia 18 by Paris Brain Institute, Inserm - ICM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_007175.8(ERLIN2):c.799A>G (p.Lys267Glu)	rs2129726150
NM_007175.8(ERLIN2):c.819G>A (p.Lys273=)	rs779335579
NM_007175.8(ERLIN2):c.877A>G (p.Ser293Gly)	rs2129728774

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