ClinVar Miner

List of variants in gene L1CAM reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn) rs148516831 0.00003
NM_001278116.2(L1CAM):c.3322+11G>A rs1372534909 0.00003
NM_001278116.2(L1CAM):c.1533C>A (p.Asn511Lys)
NM_001278116.2(L1CAM):c.1613C>T (p.Thr538Met)
NM_001278116.2(L1CAM):c.1811_1816dup (p.Gln605_Leu606insProGln)
NM_001278116.2(L1CAM):c.1864G>A (p.Asp622Asn)
NM_001278116.2(L1CAM):c.198-9C>A rs782753470
NM_001278116.2(L1CAM):c.2078A>T (p.Asn693Ile)
NM_001278116.2(L1CAM):c.2138C>G (p.Ala713Gly)
NM_001278116.2(L1CAM):c.2750-6C>T
NM_001278116.2(L1CAM):c.292A>G (p.Thr98Ala) rs2148500068
NM_001278116.2(L1CAM):c.3019C>G (p.Arg1007Gly) rs1557090232
NM_001278116.2(L1CAM):c.3043T>C (p.Ser1015Pro)
NM_001278116.2(L1CAM):c.718_775delinsACATTGACAG (p.Pro240_Pro259delinsThrLeuThrAla) rs2148498265
NM_001278116.2(L1CAM):c.991+6G>A

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