ClinVar Miner

List of variants in gene L1CAM reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 35
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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.3519C>T (p.Phe1173=) rs142277193 0.00188
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625 0.00131
NM_001278116.2(L1CAM):c.2697C>T (p.Asn899=) rs139178593 0.00052
NM_001278116.2(L1CAM):c.1547-4T>A rs200148275 0.00030
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) rs149309725 0.00017
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) rs199592861 0.00010
NM_001278116.2(L1CAM):c.2537G>T (p.Arg846Leu) rs149737236 0.00009
NM_001278116.2(L1CAM):c.232C>T (p.Pro78Ser) rs144542429 0.00007
NM_001278116.2(L1CAM):c.3099C>T (p.Val1033=) rs782495914 0.00004
NM_001278116.2(L1CAM):c.3542+14G>A rs782488294 0.00004
NM_001278116.2(L1CAM):c.3015C>T (p.Ile1005=) rs202082978 0.00002
NM_001278116.2(L1CAM):c.3322+19G>A rs375076231 0.00002
NM_001278116.2(L1CAM):c.401-16C>T rs782088649 0.00002
NM_001278116.2(L1CAM):c.943G>A (p.Glu315Lys) rs782423426 0.00002
NM_001278116.2(L1CAM):c.1379+7G>A rs1557092040 0.00001
NM_001278116.2(L1CAM):c.-45T>A rs1057523538
NM_001278116.2(L1CAM):c.2431+300_2431+311del rs781876038
NM_001278116.2(L1CAM):c.2548-37C>A
NM_001278116.2(L1CAM):c.3039C>G (p.Ala1013=) rs1557090222
NM_001278116.2(L1CAM):c.3081G>T (p.Ala1027=) rs139393266
NM_001278116.2(L1CAM):c.3323-11C>G rs782110687
NM_001278116.2(L1CAM):c.3323-24dup rs782818719
NM_001278116.2(L1CAM):c.400+291C>G rs1329722584
NM_001278116.2(L1CAM):c.401-12T>C rs1603276254
NM_001278116.2(L1CAM):c.523+16C>T rs1057523154
NM_001278116.2(L1CAM):c.704T>C (p.Met235Thr) rs1557092782
NM_001278116.2(L1CAM):c.76+194C>A rs112639341

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