ClinVar Miner

List of variants in gene LGI1 reported as pathogenic for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_005097.4(LGI1):c.406C>T (p.Arg136Trp) rs119488099 0.00001
NM_005097.4(LGI1):c.988C>T (p.Arg330Ter) rs1027289865 0.00001
NC_000010.10:g.(?_95517882)_(95537394_?)del
NC_000010.10:g.(?_95517902)_(95518136_?)del
NC_000010.11:g.(93704377_?)_(?_93785620)del
NM_005097.4(LGI1):c.1013T>C (p.Phe338Ser) rs869025201
NM_005097.4(LGI1):c.108del (p.Lys36fs) rs2133975489
NM_005097.4(LGI1):c.1104C>A (p.Tyr368Ter)
NM_005097.4(LGI1):c.1118T>A (p.Leu373Ter) rs2134026513
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.1252C>T (p.Gln418Ter) rs2134026684
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.1396C>T (p.Gln466Ter)
NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter) rs797044998
NM_005097.4(LGI1):c.1439_1442del (p.Gln480fs) rs1554907835
NM_005097.4(LGI1):c.1442del (p.Pro481fs) rs2134026964
NM_005097.4(LGI1):c.1465del (p.Tyr489fs) rs1589776148
NM_005097.4(LGI1):c.1580_1581del (p.His527fs) rs1364913665
NM_005097.4(LGI1):c.1599dup (p.Asn534Ter) rs2134027169
NM_005097.4(LGI1):c.360-3C>A rs1589762127
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.416del (p.Lys139fs)
NM_005097.4(LGI1):c.431+1G>A rs2134001459
NM_005097.4(LGI1):c.443dup (p.Asn148fs) rs2134017940
NM_005097.4(LGI1):c.446_449del (p.Asn149fs) rs2134017952
NM_005097.4(LGI1):c.598del (p.Cys200fs)
NM_005097.4(LGI1):c.600C>A (p.Cys200Ter)
NM_005097.4(LGI1):c.611del (p.Pro204fs)
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.795G>A (p.Trp265Ter) rs2134021516
NM_005097.4(LGI1):c.953T>G (p.Phe318Cys) rs28939075

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