ClinVar Miner

List of variants in gene L1CAM reported as likely pathogenic by Invitae

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys) rs367665974 0.00001
NM_001278116.2(L1CAM):c.1380-2A>T
NM_001278116.2(L1CAM):c.1702_1703+14del rs1603275315
NM_001278116.2(L1CAM):c.1703+1G>A rs2148496455
NM_001278116.2(L1CAM):c.1940-1G>A rs2148495739
NM_001278116.2(L1CAM):c.2137+1G>A rs1557091278
NM_001278116.2(L1CAM):c.2547+2T>G
NM_001278116.2(L1CAM):c.3046+1G>C rs1557090220
NM_001278116.2(L1CAM):c.3046+1G>T
NM_001278116.2(L1CAM):c.3167-2A>G
NM_001278116.2(L1CAM):c.401-1G>A rs2064766332
NM_001278116.2(L1CAM):c.473G>A (p.Cys158Tyr) rs1603276234
NM_001278116.2(L1CAM):c.476_524-42delinsGAA
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278116.2(L1CAM):c.806+5G>A rs878853979
NM_001278116.2(L1CAM):c.92-1G>A
NM_001278116.2(L1CAM):c.998C>G (p.Pro333Arg) rs1064793162

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