ClinVar Miner

List of variants in gene L1CAM reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=) rs139393266 0.00285
NM_001278116.2(L1CAM):c.3519C>T (p.Phe1173=) rs142277193 0.00188
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) rs140678848 0.00180
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625 0.00131
NM_001278116.2(L1CAM):c.3672G>A (p.Ser1224=) rs146526273 0.00054
NM_001278116.2(L1CAM):c.2697C>T (p.Asn899=) rs139178593 0.00052
NM_001278116.2(L1CAM):c.964C>T (p.Arg322Trp) rs144692079 0.00048
NM_001278116.2(L1CAM):c.2274G>A (p.Gly758=) rs2071643 0.00017
NM_001278116.2(L1CAM):c.3327C>T (p.Arg1109=) rs150419364 0.00017
NM_001278116.2(L1CAM):c.294G>A (p.Thr98=) rs4898371 0.00014
NM_001278116.2(L1CAM):c.2853C>T (p.Tyr951=) rs148187017 0.00013
NM_001278116.2(L1CAM):c.2232C>T (p.Asn744=) rs201081454 0.00009
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu) rs149737236 0.00009
NM_001278116.2(L1CAM):c.1759G>C (p.Gly587Arg) rs199888009 0.00008
NM_001278116.2(L1CAM):c.1863C>T (p.Ser621=) rs782026679 0.00008
NM_001278116.2(L1CAM):c.3710C>T (p.Ala1237Val) rs370546591 0.00008
NM_001278116.2(L1CAM):c.99G>C (p.Glu33Asp) rs201990980 0.00006
NM_001278116.2(L1CAM):c.2412C>T (p.Ile804=) rs201540601 0.00001
NM_001278116.2(L1CAM):c.3711G>A (p.Ala1237=) rs782576787 0.00001
NM_001278116.2(L1CAM):c.570C>T (p.Asn190=) rs202098484 0.00001
NM_001278116.2(L1CAM):c.1446G>A (p.Leu482=)
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=) rs201131192
NM_001278116.2(L1CAM):c.1581A>T (p.Thr527=)
NM_001278116.2(L1CAM):c.2334G>A (p.Thr778=)
NM_001278116.2(L1CAM):c.270C>G (p.Pro90=)
NM_001278116.2(L1CAM):c.2712G>T (p.Gly904=)
NM_001278116.2(L1CAM):c.2745G>A (p.Glu915=)
NM_001278116.2(L1CAM):c.3627C>T (p.Ala1209=)
NM_001278116.2(L1CAM):c.669A>G (p.Glu223=)
NM_001278116.2(L1CAM):c.931C>T (p.Arg311Cys)

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