ClinVar Miner

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

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Gene type:
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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625 0.00131
NM_001278116.2(L1CAM):c.3530+8G>A rs200870843 0.00095
NM_001278116.2(L1CAM):c.964C>T (p.Arg322Trp) rs144692079 0.00048
NM_001278116.2(L1CAM):c.3441G>A (p.Lys1147=) rs199661695 0.00037
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.1547-14C>T rs145192924 0.00009
NM_001278116.2(L1CAM):c.2232C>T (p.Asn744=) rs201081454 0.00009
NM_001278116.2(L1CAM):c.3735G>A (p.Gly1245=) rs200206375 0.00009
NM_001278116.2(L1CAM):c.3710C>T (p.Ala1237Val) rs370546591 0.00008
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.1781G>A (p.Ser594Asn) rs202107752 0.00003
NM_001278116.2(L1CAM):c.1143G>A (p.Lys381=) rs1185735801 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.114G>A (p.Thr38=)
NM_001278116.2(L1CAM):c.1305G>A (p.Thr435=)
NM_001278116.2(L1CAM):c.132C>A (p.Arg44=)
NM_001278116.2(L1CAM):c.133C>A (p.Leu45Met)
NM_001278116.2(L1CAM):c.1707C>T (p.Tyr569=)
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.2313C>T (p.Pro771=)
NM_001278116.2(L1CAM):c.3406G>A (p.Val1136Ile)
NM_001278116.2(L1CAM):c.351C>T (p.Ser117=)
NM_001278116.2(L1CAM):c.391A>G (p.Met131Val)
NM_001278116.2(L1CAM):c.603C>G (p.Ser201=) rs782223025
NM_001278116.2(L1CAM):c.771G>A (p.Gly257=)
NM_001278116.2(L1CAM):c.795C>T (p.Ile265=)
NM_001278116.2(L1CAM):c.833G>A (p.Arg278His)

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