ClinVar Miner

List of variants in gene L1CAM reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.2209-6C>T rs7885771 0.05725
NM_001278116.2(L1CAM):c.1268-10C>T rs112841948 0.03467
NM_001278116.2(L1CAM):c.855C>T (p.Ala285=) rs1042512 0.03189
NM_001278116.2(L1CAM):c.197+17G>A rs5987174 0.02545
NM_001278116.2(L1CAM):c.2307C>T (p.Ser769=) rs5987173 0.01697
NM_001278116.2(L1CAM):c.1704-14C>T rs140240430 0.01472
NM_001278116.2(L1CAM):c.2872C>G (p.Leu958Val) rs35902890 0.01086
NM_001278116.2(L1CAM):c.720G>A (p.Pro240=) rs35151382 0.01040
NM_001278116.2(L1CAM):c.28C>T (p.Pro10Ser) rs144605615 0.00970
NM_001278116.2(L1CAM):c.1977T>C (p.Pro659=) rs143382184 0.00854
NM_001278116.2(L1CAM):c.36C>A (p.Leu12=) rs140678848 0.00180
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_001278116.2(L1CAM):c.3672G>A (p.Ser1224=) rs146526273 0.00054
NM_001278116.2(L1CAM):c.2211G>A (p.Pro737=) rs146782397 0.00035
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.3642C>T (p.Ser1214=) rs782341083 0.00008
NM_001278116.2(L1CAM):c.2106G>A (p.Pro702=) rs200561489 0.00007
NM_001278116.2(L1CAM):c.618C>A (p.Asp206Glu) rs201474883 0.00007
NM_001278116.2(L1CAM):c.2872+9G>A rs398123363 0.00005
NM_001278116.2(L1CAM):c.400+9C>T rs201057718 0.00005
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=) rs202082978 0.00002
NM_001278116.2(L1CAM):c.1187C>A (p.Pro396His) rs781830365 0.00001
NM_001278116.2(L1CAM):c.255C>T (p.Thr85=) rs201886318 0.00001
NM_001278116.2(L1CAM):c.3412C>G (p.Leu1138Val) rs781860875 0.00001
NM_001278116.2(L1CAM):c.91+1G>T rs797045676 0.00001
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) rs137852520
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=) rs201131192
NM_001278116.2(L1CAM):c.1704-12G>C rs916169
NM_001278116.2(L1CAM):c.1704G>A (p.Lys568=) rs1557091675
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673
NM_001278116.2(L1CAM):c.2351A>G (p.Tyr784Cys) rs797045674
NM_001278116.2(L1CAM):c.2614G>T (p.Val872Leu) rs797045675
NM_001278116.2(L1CAM):c.3053C>G (p.Ser1018Ter) rs1557090161
NM_001278116.2(L1CAM):c.807-6G>A rs886039405

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