ClinVar Miner

List of variants in gene LGI1 reported as pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
LGI1, 1-BP DEL, 835C
LGI1, 1320C-T
LGI1, 81-KB DEL
LGI1, IVS5DS, G-A, +1
NC_000010.11:g.(93704377_?)_(?_93785620)del
NM_005097.4(LGI1):c.1013T>C (p.Phe338Ser) rs869025201
NM_005097.4(LGI1):c.1128G>A (p.Trp376Ter) rs1060502053
NM_005097.4(LGI1):c.1148A>C (p.Glu383Ala) rs28937874
NM_005097.4(LGI1):c.1158_1168dup (p.Thr390delinsLysTer) rs1554907767
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.1256T>G (p.Leu419Ter) rs1554907787
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.1580_1581del (p.His527fs)
NM_005097.4(LGI1):c.360-3C>A
NM_005097.4(LGI1):c.365T>A (p.Ile122Lys) rs119488100
NM_005097.4(LGI1):c.386C>G (p.Ser129Ter) rs1564845068
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) rs119488099
NM_005097.4(LGI1):c.688C>T (p.Gln230Ter) rs1060502054
NM_005097.4(LGI1):c.695T>C (p.Leu232Pro) rs104894167
NM_005097.4(LGI1):c.758del (p.Ala253fs) rs797044997
NM_005097.4(LGI1):c.953T>G (p.Phe318Cys) rs28939075

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