ClinVar Miner

List of variants reported as pathogenic for Progressive myoclonic epilepsy type 8

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)	rs1375601977	0.00001
NM_021267.5(CERS1):c.274C>T (p.Gln92Ter)	rs561672108
NM_021267.5(CERS1):c.549C>G (p.His183Gln)	rs200024180

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