ClinVar Miner

List of variants in gene L1CAM reported as pathogenic for not provided

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Gene type:
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met) rs137852525 0.00001
NM_001278116.2(L1CAM):c.3496C>T (p.Arg1166Ter) rs1418885000 0.00001
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys) rs367665974 0.00001
NM_001278116.2(L1CAM):c.1028_1032dup (p.Gly345fs) rs1557092418
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) rs137852524
NM_001278116.2(L1CAM):c.1146C>G (p.Tyr382Ter) rs886041704
NM_001278116.2(L1CAM):c.1267C>T (p.Gln423Ter) rs1557092248
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) rs137852520
NM_001278116.2(L1CAM):c.1365del (p.Ser457fs)
NM_001278116.2(L1CAM):c.1379G>A (p.Trp460Ter) rs1557092042
NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter) rs1064793163
NM_001278116.2(L1CAM):c.1417C>T (p.Arg473Cys) rs886039408
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter) rs886039407
NM_001278116.2(L1CAM):c.1485C>G (p.Tyr495Ter) rs1131691964
NM_001278116.2(L1CAM):c.1672C>T (p.Arg558Ter) rs1557091773
NM_001278116.2(L1CAM):c.1704-1G>A rs1557091678
NM_001278116.2(L1CAM):c.1767C>A (p.Tyr589Ter) rs377470679
NM_001278116.2(L1CAM):c.177del (p.Ser60fs) rs886039404
NM_001278116.2(L1CAM):c.1780del (p.Ser594fs) rs1557091629
NM_001278116.2(L1CAM):c.1828+1G>A rs2148496168
NM_001278116.2(L1CAM):c.1939+1G>A rs1064793801
NM_001278116.2(L1CAM):c.1983del (p.Lys661fs) rs1557091377
NM_001278116.2(L1CAM):c.2092G>A (p.Gly698Arg) rs886039409
NM_001278116.2(L1CAM):c.2209-42_2229del rs1557091079
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673
NM_001278116.2(L1CAM):c.23del (p.Val8fs) rs398123362
NM_001278116.2(L1CAM):c.2433C>A (p.Tyr811Ter) rs782553641
NM_001278116.2(L1CAM):c.2438dup (p.Ala814fs) rs1131691666
NM_001278116.2(L1CAM):c.2544C>A (p.Tyr848Ter) rs886039410
NM_001278116.2(L1CAM):c.2547+1G>A rs886039411
NM_001278116.2(L1CAM):c.2593_2594del (p.His865fs) rs1603274308
NM_001278116.2(L1CAM):c.266C>A (p.Ser89Ter) rs782178366
NM_001278116.2(L1CAM):c.26G>A (p.Trp9Ter) rs1557094409
NM_001278116.2(L1CAM):c.2701C>T (p.Arg901Ter) rs2148494055
NM_001278116.2(L1CAM):c.2879del (p.Glu960fs) rs398123364
NM_001278116.2(L1CAM):c.2918_2919del (p.Pro973fs) rs1557090314
NM_001278116.2(L1CAM):c.2974C>T (p.Gln992Ter) rs879253717
NM_001278116.2(L1CAM):c.3071C>G (p.Ser1024Ter) rs1557090143
NM_001278116.2(L1CAM):c.3201T>G (p.Tyr1067Ter) rs1569544629
NM_001278116.2(L1CAM):c.3531-12G>A rs111247323
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.3671C>T (p.Ser1224Leu) rs2148491960
NM_001278116.2(L1CAM):c.48del (p.Cys17fs) rs1603277417
NM_001278116.2(L1CAM):c.502del (p.Arg168fs) rs1557092994
NM_001278116.2(L1CAM):c.523+12C>T rs886039406
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) rs1603276146
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278116.2(L1CAM):c.806+1G>C rs1064793920
NM_001278116.2(L1CAM):c.807-6G>A rs886039405
NM_001278116.2(L1CAM):c.992-2A>G rs878853099
NM_001278116.2(L1CAM):c.998C>G (p.Pro333Arg) rs1064793162

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