ClinVar Miner

List of variants in gene L1CAM reported as likely benign for not provided

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.77-248G>A rs149814383 0.02769
NM_001278116.2(L1CAM):c.76+232G>T rs12388940 0.01477
NM_001278116.2(L1CAM):c.77-132C>A rs73627232 0.01445
NM_001278116.2(L1CAM):c.*203G>C rs150098621 0.01438
NM_001278116.2(L1CAM):c.400+156T>C rs192998082 0.01006
NM_001278116.2(L1CAM):c.2431+329T>C rs191234163 0.00633
NM_001278116.2(L1CAM):c.400+55G>A rs143000476 0.00558
NM_001278116.2(L1CAM):c.76+225G>A rs188830982 0.00351
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.964C>T (p.Arg322Trp) rs144692079 0.00048
NM_001278116.2(L1CAM):c.3441G>A (p.Lys1147=) rs199661695 0.00037
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.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.256G>A (p.Val86Met) rs149309725 0.00017
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.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.3015C>T (p.Ile1005=) rs202082978 0.00002
NM_001278116.2(L1CAM):c.943G>A (p.Glu315Lys) rs782423426 0.00002
NM_001278116.2(L1CAM):c.1143G>A (p.Lys381=) rs1185735801 0.00001
NM_001278116.2(L1CAM):c.1379+7G>A rs1557092040 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.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.2431+300_2431+311del rs781876038
NM_001278116.2(L1CAM):c.2452C>T (p.Leu818=) rs1603274419
NM_001278116.2(L1CAM):c.2548-37C>A
NM_001278116.2(L1CAM):c.3081G>T (p.Ala1027=) rs139393266
NM_001278116.2(L1CAM):c.3323-24dup rs782818719
NM_001278116.2(L1CAM):c.3406G>A (p.Val1136Ile)
NM_001278116.2(L1CAM):c.391A>G (p.Met131Val)
NM_001278116.2(L1CAM):c.400+291C>G rs1329722584
NM_001278116.2(L1CAM):c.401-12T>C rs1603276254
NM_001278116.2(L1CAM):c.603C>G (p.Ser201=) rs782223025
NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr) rs1557092782
NM_001278116.2(L1CAM):c.76+194C>A rs112639341

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