ClinVar Miner

List of variants in gene L1CAM reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.964C>T (p.Arg322Trp) rs144692079 0.00048
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=) rs142563956 0.00028
NM_001278116.2(L1CAM):c.984C>T (p.Thr328=) rs200638763 0.00028
NM_001278116.2(L1CAM):c.1547-18C>T rs200876938 0.00018
NM_001278116.2(L1CAM):c.3327C>T (p.Arg1109=) rs150419364 0.00017
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=) rs201204893 0.00014
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) rs199592861 0.00010
NM_001278116.2(L1CAM):c.3710C>T (p.Ala1237Val) rs370546591 0.00008
NM_001278116.2(L1CAM):c.618C>A (p.Asp206Glu) rs201474883 0.00007
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=) rs200768501 0.00006
NM_001278116.2(L1CAM):c.2721C>T (p.Ser907=) rs200799618 0.00006
NM_001278116.2(L1CAM):c.798C>T (p.Ala266=) rs111597352 0.00005
NM_001278116.2(L1CAM):c.1050C>T (p.Ala350=) rs182851917 0.00003
NM_001278116.2(L1CAM):c.1261G>A (p.Val421Ile) rs200006286 0.00003
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp) rs201978087 0.00003
NM_001278116.2(L1CAM):c.1387G>A (p.Glu463Lys) rs202175564 0.00002
NM_001278116.2(L1CAM):c.1978G>A (p.Glu660Lys) rs200688598 0.00002
NM_001278116.2(L1CAM):c.1143G>A (p.Lys381=) rs1185735801 0.00001
NM_001278116.2(L1CAM):c.1180G>A (p.Val394Met) rs782477425 0.00001
NM_001278116.2(L1CAM):c.1546+6G>A rs202154173 0.00001
NM_001278116.2(L1CAM):c.2105C>T (p.Pro702Leu) rs782568205 0.00001
NM_001278116.2(L1CAM):c.3000C>T (p.Gly1000=) rs149420127 0.00001
NM_001278116.2(L1CAM):c.33C>T (p.Leu11=) rs199910719 0.00001
NM_001278116.2(L1CAM):c.666G>A (p.Lys222=) rs782615469 0.00001
NM_001278116.2(L1CAM):c.114G>A (p.Thr38=)
NM_001278116.2(L1CAM):c.1205C>G (p.Thr402Ser) rs1222808372
NM_001278116.2(L1CAM):c.1234C>G (p.Leu412Val)
NM_001278116.2(L1CAM):c.1411G>A (p.Asp471Asn) rs1603275442
NM_001278116.2(L1CAM):c.1828+5G>A rs1064793164
NM_001278116.2(L1CAM):c.1839G>A (p.Gly613=)
NM_001278116.2(L1CAM):c.1842G>A (p.Pro614=) rs2064729357
NM_001278116.2(L1CAM):c.1878G>A (p.Leu626=)
NM_001278116.2(L1CAM):c.1972G>A (p.Ala658Thr) rs2064725346
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673
NM_001278116.2(L1CAM):c.3406G>A (p.Val1136Ile)
NM_001278116.2(L1CAM):c.3500C>T (p.Pro1167Leu) rs2064682269
NM_001278116.2(L1CAM):c.3592G>C (p.Asp1198His) rs1557089353
NM_001278116.2(L1CAM):c.391A>G (p.Met131Val)
NM_001278116.2(L1CAM):c.400+5G>A rs1569544908
NM_001278116.2(L1CAM):c.603C>G (p.Ser201=) rs782223025
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526

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