ClinVar Miner

List of variants in gene L1CAM reported as pathogenic for Spastic paraplegia

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Gene type:
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Total variants: 50
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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
NC_000023.10:g.(?_153128098)_(153141311_?)del
NC_000023.10:g.(?_153129318)_(153131294_?)del
NC_000023.10:g.(?_153129338)_(153131274_?)del
NC_000023.10:g.(?_153132791)_(153141311_?)del
NC_000023.10:g.(?_153135069)_(153135421_?)del
NC_000023.10:g.(?_153136492)_(153138172_?)del
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) rs137852524
NM_001278116.2(L1CAM):c.1210del (p.Cys404fs)
NM_001278116.2(L1CAM):c.1267+1G>A rs1557092247
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.1417C>T (p.Arg473Cys) rs886039408
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter) rs886039407
NM_001278116.2(L1CAM):c.1528del (p.Ala510fs)
NM_001278116.2(L1CAM):c.1603del (p.Arg534_Val535insTer)
NM_001278116.2(L1CAM):c.1672C>T (p.Arg558Ter) rs1557091773
NM_001278116.2(L1CAM):c.1823del (p.Val608fs) rs1603275195
NM_001278116.2(L1CAM):c.1939A>T (p.Lys647Ter) rs863224494
NM_001278116.2(L1CAM):c.2014C>T (p.Gln672Ter) rs1569544723
NM_001278116.2(L1CAM):c.2092G>A (p.Gly698Arg) rs886039409
NM_001278116.2(L1CAM):c.2431+5G>A rs1557090943
NM_001278116.2(L1CAM):c.2539G>T (p.Gly847Ter)
NM_001278116.2(L1CAM):c.2544C>A (p.Tyr848Ter) rs886039410
NM_001278116.2(L1CAM):c.2559G>A (p.Trp853Ter) rs2064704974
NM_001278116.2(L1CAM):c.2654T>A (p.Leu885Ter) rs2148494096
NM_001278116.2(L1CAM):c.2701C>T (p.Arg901Ter) rs2148494055
NM_001278116.2(L1CAM):c.2813G>A (p.Trp938Ter) rs2148493891
NM_001278116.2(L1CAM):c.2822C>T (p.Pro941Leu) rs2148493879
NM_001278116.2(L1CAM):c.2872+1G>A
NM_001278116.2(L1CAM):c.2893C>T (p.Gln965Ter)
NM_001278116.2(L1CAM):c.3053C>G (p.Ser1018Ter) rs1557090161
NM_001278116.2(L1CAM):c.3166+1G>T rs1603273984
NM_001278116.2(L1CAM):c.3368del (p.Phe1123fs)
NM_001278116.2(L1CAM):c.3448_3452delinsGGG (p.Lys1150fs) rs2064686873
NM_001278116.2(L1CAM):c.3453_3456del (p.Lys1150_Tyr1151insTer)
NM_001278116.2(L1CAM):c.3531-12G>A rs111247323
NM_001278116.2(L1CAM):c.400+5G>A rs1569544908
NM_001278116.2(L1CAM):c.523+12C>T rs886039406
NM_001278116.2(L1CAM):c.550C>T (p.Arg184Trp)
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) rs137852521
NM_001278116.2(L1CAM):c.565C>T (p.Gln189Ter)
NM_001278116.2(L1CAM):c.616del (p.Asp206fs) rs2148498736
NM_001278116.2(L1CAM):c.644_648dup (p.Arg217fs) rs2148498706
NM_001278116.2(L1CAM):c.78T>A (p.Tyr26Ter)
NM_001278116.2(L1CAM):c.791G>T (p.Cys264Phe) rs137852518
NM_001278116.2(L1CAM):c.806+1G>C rs1064793920
NM_001278116.2(L1CAM):c.807-6G>A rs886039405
NM_001278116.2(L1CAM):c.910G>T (p.Glu304Ter) rs201311640

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