ClinVar Miner

List of variants reported as pathogenic for Epilepsy, lateral temporal lobe, autosomal dominant by GeneReviews

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Total variants: 7
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HGVS dbSNP
NC_000010.11:g.(93704377_?)_(?_93785620)del
NM_005097.4(LGI1):c.124T>C (p.Cys42Arg) rs797044996
NM_005097.4(LGI1):c.124T>G (p.Cys42Gly) rs797044996
NM_005097.4(LGI1):c.136T>C (p.Cys46Arg) rs104894166
NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu) rs797044999
NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter) rs797044998
NM_005097.4(LGI1):c.758del (p.Ala253fs) rs797044997

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