ClinVar Miner

List of variants studied for Epilepsy, lateral temporal lobe, autosomal dominant by OMIM

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Total variants: 11
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HGVS dbSNP
LGI1, 1-BP DEL, 835C
LGI1, 1320C-T
LGI1, 81-KB DEL
LGI1, IVS5DS, G-A, +1
NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala) rs28937874
NM_005097.4(LGI1):c.136T>C (p.Cys46Arg) rs104894166
NM_005097.4(LGI1):c.360-3C>A
NM_005097.4(LGI1):c.365T>A (p.Ile122Lys) rs119488100
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) rs119488099
NM_005097.4(LGI1):c.695T>C (p.Leu232Pro) rs104894167
NM_005097.4(LGI1):c.953T>G (p.Phe318Cys) rs28939075

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