ClinVar Miner

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

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr) rs782752037 0.00004
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.925G>A (p.Glu309Lys) rs367665974 0.00001
NM_001278116.2(L1CAM):c.1267+1G>A rs1557092247
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.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.1829-2A>G
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.2269C>T (p.Gln757Ter)
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter) rs875989884
NM_001278116.2(L1CAM):c.2432-1G>A
NM_001278116.2(L1CAM):c.2712del (p.Ala906fs) rs2064703218
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.3241C>T (p.Gln1081Ter) rs2064692244
NM_001278116.2(L1CAM):c.3638del (p.Gly1213fs)
NM_001278116.2(L1CAM):c.523+12C>T rs886039406
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) rs137852521
NM_001278116.2(L1CAM):c.718_775delinsACATTGACAG (p.Pro240_Pro259delinsThrLeuThrAla) rs2148498265
NM_001278116.2(L1CAM):c.807-6G>A rs886039405
NM_001278116.2(L1CAM):c.991+6G>A

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