ClinVar Miner

List of variants in gene LGI1 reported as likely benign for autosomal dominant epilepsy with auditory features

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_005097.4(LGI1):c.657= (p.Phe219=) rs1111820 0.02343
NM_005097.4(LGI1):c.*215T>C rs17502662 0.00589
NM_005097.4(LGI1):c.717A>C (p.Ile239=) rs146425212 0.00043
NM_005097.4(LGI1):c.1155A>C (p.Leu385=) rs202148793 0.00026
NM_005097.4(LGI1):c.270G>A (p.Thr90=) rs139862877 0.00020
NM_005097.4(LGI1):c.588A>G (p.Glu196=) rs149816434 0.00016
NM_005097.4(LGI1):c.756C>T (p.Ile252=) rs368264015 0.00009
NM_005097.4(LGI1):c.812C>T (p.Thr271Ile) rs140752487 0.00009
NM_005097.4(LGI1):c.303C>T (p.Asn101=) rs762343857 0.00008
NM_005097.4(LGI1):c.1122C>T (p.His374=) rs150515718 0.00006
NM_005097.4(LGI1):c.1290G>A (p.Glu430=) rs139879036 0.00006
NM_005097.4(LGI1):c.1668C>T (p.Ser556=) rs763654125 0.00006
NM_005097.4(LGI1):c.1392G>A (p.Ser464=) rs148804268 0.00005
NM_005097.4(LGI1):c.738T>A (p.Asn246Lys) rs781404129 0.00005
NM_005097.4(LGI1):c.1368A>G (p.Lys456=) rs369166517 0.00004
NM_005097.4(LGI1):c.1578A>C (p.Thr526=) rs776735038 0.00004
NM_005097.4(LGI1):c.744G>A (p.Glu248=) rs199916185 0.00004
NM_005097.4(LGI1):c.801T>C (p.His267=) rs759132595 0.00004
NM_005097.4(LGI1):c.837A>G (p.Thr279=) rs755068491 0.00004
NM_005097.4(LGI1):c.132C>T (p.Ala44=) rs751847276 0.00003
NM_005097.4(LGI1):c.1471A>G (p.Ile491Val) rs756891254 0.00003
NM_005097.4(LGI1):c.300G>A (p.Ser100=) rs1194691936 0.00003
NM_005097.4(LGI1):c.432-20C>T rs895636677 0.00003
NM_005097.4(LGI1):c.75C>T (p.Leu25=) rs144700062 0.00003
NM_005097.4(LGI1):c.216-15T>C rs1008193551 0.00002
NM_005097.4(LGI1):c.276G>A (p.Ser92=) rs377278767 0.00002
NM_005097.4(LGI1):c.287+15T>C rs775813063 0.00002
NM_005097.4(LGI1):c.648G>A (p.Ser216=) rs779577088 0.00002
NM_005097.4(LGI1):c.768T>C (p.Phe256=) rs372978335 0.00002
NM_005097.4(LGI1):c.1011A>T (p.Thr337=) rs772127033 0.00001
NM_005097.4(LGI1):c.1095C>T (p.Asn365=) rs934556455 0.00001
NM_005097.4(LGI1):c.1170A>G (p.Thr390=) rs1252407810 0.00001
NM_005097.4(LGI1):c.1314C>T (p.Phe438=) rs1312538262 0.00001
NM_005097.4(LGI1):c.1329C>T (p.Asp443=) rs748900375 0.00001
NM_005097.4(LGI1):c.1342T>C (p.Leu448=) rs376203682 0.00001
NM_005097.4(LGI1):c.1371C>T (p.Val457=) rs2059991277 0.00001
NM_005097.4(LGI1):c.1407G>A (p.Gln469=) rs767491633 0.00001
NM_005097.4(LGI1):c.1422A>G (p.Arg474=) rs2059991677 0.00001
NM_005097.4(LGI1):c.1671A>C (p.Ala557=) rs756693272 0.00001
NM_005097.4(LGI1):c.216-18T>C rs779957598 0.00001
NM_005097.4(LGI1):c.219C>T (p.Ser73=) rs780811762 0.00001
NM_005097.4(LGI1):c.261T>C (p.Phe87=) rs1379302749 0.00001
NM_005097.4(LGI1):c.288G>A (p.Leu96=) rs761037722 0.00001
NM_005097.4(LGI1):c.297A>C (p.Thr99=) rs777027658 0.00001
NM_005097.4(LGI1):c.299C>T (p.Ser100Leu) rs1263918669 0.00001
NM_005097.4(LGI1):c.327T>C (p.Asp109=) rs1245324867 0.00001
NM_005097.4(LGI1):c.360-7A>G rs770317882 0.00001
NM_005097.4(LGI1):c.393A>G (p.Ser131=) rs199548601 0.00001
NM_005097.4(LGI1):c.430T>C (p.Leu144=) rs764298959 0.00001
NM_005097.4(LGI1):c.504-20A>G rs796052691 0.00001
NM_005097.4(LGI1):c.519T>C (p.Asn173=) rs587780379 0.00001
NM_005097.4(LGI1):c.528T>C (p.Asn176=) rs2059947443 0.00001
NM_005097.4(LGI1):c.609C>T (p.Pro203=) rs750257566 0.00001
NM_005097.4(LGI1):c.69A>G (p.Leu23=) rs868635600 0.00001
NM_005097.4(LGI1):c.838+10G>A rs756267808 0.00001
NM_005097.4(LGI1):c.96T>C (p.Thr32=) rs763640706 0.00001
NM_005097.3(LGI1):c.-280G>C rs74150339
NM_005097.4(LGI1):c.1011A>C (p.Thr337=)
NM_005097.4(LGI1):c.1026C>G (p.Asn342Lys) rs1554907730
NM_005097.4(LGI1):c.1089C>T (p.Asn363=)
NM_005097.4(LGI1):c.1125G>A (p.Ala375=)
NM_005097.4(LGI1):c.1125G>C (p.Ala375=) rs886047487
NM_005097.4(LGI1):c.1185A>G (p.Arg395=)
NM_005097.4(LGI1):c.1188G>A (p.Thr396=)
NM_005097.4(LGI1):c.1188G>T (p.Thr396=) rs545650972
NM_005097.4(LGI1):c.1206T>C (p.Ser402=)
NM_005097.4(LGI1):c.1242C>T (p.Asn414=)
NM_005097.4(LGI1):c.1245A>G (p.Lys415=)
NM_005097.4(LGI1):c.126C>T (p.Cys42=)
NM_005097.4(LGI1):c.1296G>A (p.Val432=)
NM_005097.4(LGI1):c.1302A>G (p.Ala434=)
NM_005097.4(LGI1):c.1347A>G (p.Thr449=)
NM_005097.4(LGI1):c.1365C>T (p.Ser455=) rs762002155
NM_005097.4(LGI1):c.1419G>A (p.Ser473=) rs1040194336
NM_005097.4(LGI1):c.1419G>T (p.Ser473=)
NM_005097.4(LGI1):c.1428C>A (p.Ser476=)
NM_005097.4(LGI1):c.1434G>A (p.Val478=)
NM_005097.4(LGI1):c.1434G>T (p.Val478=) rs993421984
NM_005097.4(LGI1):c.1467T>C (p.Tyr489=)
NM_005097.4(LGI1):c.1503G>A (p.Val501=) rs1431473977
NM_005097.4(LGI1):c.1515T>C (p.Asp505=)
NM_005097.4(LGI1):c.153T>C (p.Asp51=)
NM_005097.4(LGI1):c.1560G>A (p.Gln520=) rs2134027092
NM_005097.4(LGI1):c.1566A>C (p.Pro522=) rs771120986
NM_005097.4(LGI1):c.1581T>C (p.His527=)
NM_005097.4(LGI1):c.1599T>C (p.Arg533=) rs2134027164
NM_005097.4(LGI1):c.1614T>C (p.Ala538=) rs2134027174
NM_005097.4(LGI1):c.1650T>C (p.His550=) rs563455611
NM_005097.4(LGI1):c.198T>A (p.Pro66=) rs2133975621
NM_005097.4(LGI1):c.216-12G>A
NM_005097.4(LGI1):c.219C>G (p.Ser73=)
NM_005097.4(LGI1):c.246C>A (p.Ile82=)
NM_005097.4(LGI1):c.277C>T (p.Leu93=) rs1320446814
NM_005097.4(LGI1):c.288-14C>A
NM_005097.4(LGI1):c.288-17G>C
NM_005097.4(LGI1):c.297A>G (p.Thr99=) rs777027658
NM_005097.4(LGI1):c.309T>C (p.Phe103=) rs878934761
NM_005097.4(LGI1):c.342T>G (p.Leu114=)
NM_005097.4(LGI1):c.359+14del
NM_005097.4(LGI1):c.359+15T>A
NM_005097.4(LGI1):c.360-13T>C rs2134001315
NM_005097.4(LGI1):c.414A>G (p.Leu138=)
NM_005097.4(LGI1):c.431+9G>T
NM_005097.4(LGI1):c.432-11_432-10insCT
NM_005097.4(LGI1):c.432-15_432-14insAT
NM_005097.4(LGI1):c.432-5_432-4insTA rs1554906719
NM_005097.4(LGI1):c.432-5_432-4insTC rs1554906719
NM_005097.4(LGI1):c.432-5_432-4insTTC rs1554906719
NM_005097.4(LGI1):c.432-6_432-5insAT rs761154452
NM_005097.4(LGI1):c.438T>G (p.Leu146=)
NM_005097.4(LGI1):c.483C>A (p.Gly161=) rs1014154783
NM_005097.4(LGI1):c.484C>T (p.Leu162=)
NM_005097.4(LGI1):c.498A>C (p.Thr166=) rs1057523247
NM_005097.4(LGI1):c.503+15G>T
NM_005097.4(LGI1):c.504-9G>A rs2059947219
NM_005097.4(LGI1):c.510G>A (p.Leu170=)
NM_005097.4(LGI1):c.525T>C (p.Phe175=)
NM_005097.4(LGI1):c.612A>G (p.Pro204=) rs2134020932
NM_005097.4(LGI1):c.618C>T (p.Tyr206=) rs1554907108
NM_005097.4(LGI1):c.663C>T (p.Cys221=)
NM_005097.4(LGI1):c.666C>T (p.Ile222=)
NM_005097.4(LGI1):c.673+19T>C
NM_005097.4(LGI1):c.674-18T>G
NM_005097.4(LGI1):c.674-5dup rs1467827240
NM_005097.4(LGI1):c.687T>G (p.Ser229=)
NM_005097.4(LGI1):c.705A>G (p.Gln235=) rs2059951017
NM_005097.4(LGI1):c.741T>C (p.Asp247=)
NM_005097.4(LGI1):c.747T>C (p.Tyr249=)
NM_005097.4(LGI1):c.75C>G (p.Leu25=)
NM_005097.4(LGI1):c.771T>C (p.Thr257=)
NM_005097.4(LGI1):c.838+18A>C rs1435969066
NM_005097.4(LGI1):c.839-17C>G
NM_005097.4(LGI1):c.84G>T (p.Ala28=) rs2133975468
NM_005097.4(LGI1):c.882G>A (p.Gln294=) rs1554907709
NM_005097.4(LGI1):c.924C>T (p.Ile308=) rs2134026230
NM_005097.4(LGI1):c.942T>C (p.Phe314=) rs2134026268
NM_005097.4(LGI1):c.990A>G (p.Arg330=) rs2134026312

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