ClinVar Miner

List of variants reported as pathogenic for temporal lobe epilepsy by OMIM

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_020361.5(CPA6):c.587A>G (p.His196Arg) rs376266840 0.00004
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) rs119488099 0.00001
NC_000010.11:g.(93704377_?)_(?_93785620)del
NM_005045.4(RELN):c.2288A>G (p.Asp763Gly) rs794727998
NM_005045.4(RELN):c.2392C>A (p.His798Asn) rs794727996
NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys) rs794727997
NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys) rs794727999
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.1420C>T (p.Arg474Ter) rs797044998
NM_005097.4(LGI1):c.360-3C>A rs1589762127
NM_005097.4(LGI1):c.365T>A (p.Ile122Lys) rs119488100
NM_005097.4(LGI1):c.431+1G>A rs2134001459
NM_005097.4(LGI1):c.611del (p.Pro204fs)
NM_005097.4(LGI1):c.695T>C (p.Leu232Pro) rs104894167
NM_005097.4(LGI1):c.953T>G (p.Phe318Cys) rs28939075
NM_015973.5(GAL):c.116C>A (p.Ala39Glu) rs1057517661

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