ClinVar Miner

List of variants in gene L1CAM reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
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.2307C>T (p.Ser769=) rs5987173 0.01697
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.1002C>T (p.Tyr334=) rs73640833 0.00445
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.2302G>A (p.Val768Ile) rs36021462 0.00178
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.2211G>A (p.Pro737=) rs146782397 0.00035
NM_001278116.2(L1CAM):c.1547-4T>A rs200148275 0.00030
NM_001278116.2(L1CAM):c.984C>T (p.Thr328=) rs200638763 0.00028
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) rs201151358 0.00027
NM_001278116.2(L1CAM):c.2274G>A (p.Gly758=) rs2071643 0.00017
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) rs149309725 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.649A>C (p.Arg217=) rs201204893 0.00014
NM_001278116.2(L1CAM):c.2853C>T (p.Tyr951=) rs148187017 0.00013
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) rs199592861 0.00010
NM_001278116.2(L1CAM):c.1293G>A (p.Ala431=) rs137967792 0.00009
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.3642C>T (p.Ser1214=) rs782341083 0.00008
NM_001278116.2(L1CAM):c.3710C>T (p.Ala1237Val) rs370546591 0.00008
NM_001278116.2(L1CAM):c.3434G>A (p.Arg1145His) rs952497509 0.00007
NM_001278116.2(L1CAM):c.2552C>T (p.Thr851Met) rs782419777 0.00006
NM_001278116.2(L1CAM):c.99G>C (p.Glu33Asp) rs201990980 0.00006
NM_001278116.2(L1CAM):c.1220G>A (p.Arg407His) rs139197516 0.00004
NM_001278116.2(L1CAM):c.3016G>A (p.Val1006Ile) rs201128366 0.00004
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His) rs781908326 0.00004
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp) rs201978087 0.00003
NM_001278116.2(L1CAM):c.1148G>A (p.Arg383Gln) rs782254209 0.00002
NM_001278116.2(L1CAM):c.3549C>T (p.Asn1183=) rs200916591 0.00002
NM_001278116.2(L1CAM):c.2412C>T (p.Ile804=) rs201540601 0.00001
NM_001278116.2(L1CAM):c.3654G>C (p.Gln1218His) rs1369743518 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.925G>A (p.Glu309Lys) rs367665974 0.00001
NM_001278116.2(L1CAM):c.1052G>A (p.Arg351His)
NM_001278116.2(L1CAM):c.1234C>G (p.Leu412Val)
NM_001278116.2(L1CAM):c.130C>T (p.Arg44Cys) rs370782270
NM_001278116.2(L1CAM):c.1345A>G (p.Lys449Glu)
NM_001278116.2(L1CAM):c.139G>T (p.Val47Phe)
NM_001278116.2(L1CAM):c.1446G>A (p.Leu482=)
NM_001278116.2(L1CAM):c.1475C>T (p.Thr492Ile) rs2148496683
NM_001278116.2(L1CAM):c.1581A>C (p.Thr527=) rs201131192
NM_001278116.2(L1CAM):c.1581A>T (p.Thr527=)
NM_001278116.2(L1CAM):c.1751G>A (p.Ser584Asn)
NM_001278116.2(L1CAM):c.1855G>T (p.Val619Leu)
NM_001278116.2(L1CAM):c.1909C>T (p.Pro637Ser)
NM_001278116.2(L1CAM):c.1A>G (p.Met1Val)
NM_001278116.2(L1CAM):c.2089C>G (p.Pro697Ala)
NM_001278116.2(L1CAM):c.2152C>G (p.Pro718Ala)
NM_001278116.2(L1CAM):c.2281G>A (p.Gly761Arg)
NM_001278116.2(L1CAM):c.2334G>A (p.Thr778=)
NM_001278116.2(L1CAM):c.2419T>C (p.Ser807Pro)
NM_001278116.2(L1CAM):c.2537G>A (p.Arg846His) rs149737236
NM_001278116.2(L1CAM):c.2562G>T (p.Arg854Ser) rs1032992615
NM_001278116.2(L1CAM):c.2607C>A (p.Asp869Glu)
NM_001278116.2(L1CAM):c.2623G>A (p.Ala875Thr)
NM_001278116.2(L1CAM):c.270C>G (p.Pro90=)
NM_001278116.2(L1CAM):c.2712G>T (p.Gly904=)
NM_001278116.2(L1CAM):c.2714C>T (p.Pro905Leu)
NM_001278116.2(L1CAM):c.2745G>A (p.Glu915=)
NM_001278116.2(L1CAM):c.2809C>T (p.Arg937Cys)
NM_001278116.2(L1CAM):c.2857C>G (p.Leu953Val)
NM_001278116.2(L1CAM):c.2920G>A (p.Glu974Lys)
NM_001278116.2(L1CAM):c.3068T>A (p.Ile1023Asn)
NM_001278116.2(L1CAM):c.3092A>T (p.Tyr1031Phe)
NM_001278116.2(L1CAM):c.3187C>T (p.Leu1063Phe) rs1569544630
NM_001278116.2(L1CAM):c.3214C>T (p.Gln1072Ter)
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.3627C>T (p.Ala1209=)
NM_001278116.2(L1CAM):c.3630T>G (p.Asp1210Glu)
NM_001278116.2(L1CAM):c.3774G>T (p.Ter1258Tyr) rs782235888
NM_001278116.2(L1CAM):c.524-2A>G rs2064763561
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) rs137852521
NM_001278116.2(L1CAM):c.669A>G (p.Glu223=)
NM_001278116.2(L1CAM):c.845C>A (p.Pro282His)
NM_001278116.2(L1CAM):c.931C>T (p.Arg311Cys)
NM_001278116.2(L1CAM):c.932G>A (p.Arg311His)
NM_001278116.2(L1CAM):c.991+4T>A

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