ClinVar Miner

List of variants in gene L1CAM reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.992-32C>T rs191412165 0.00352
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=) rs142563956 0.00028
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) rs201151358 0.00027
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=) rs145823218 0.00021
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.294G>A (p.Thr98=) rs4898371 0.00014
NM_001278116.2(L1CAM):c.3642C>T (p.Ser1214=) rs782341083 0.00008
NM_001278116.2(L1CAM):c.1703+10G>C rs781848372 0.00007
NM_001278116.2(L1CAM):c.1704-5C>T rs200415748 0.00004
NM_001278116.2(L1CAM):c.3099C>T (p.Val1033=) rs782495914 0.00004
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His) rs781908326 0.00004
NM_001278116.2(L1CAM):c.1261G>A (p.Val421Ile) rs200006286 0.00003
NM_001278116.2(L1CAM):c.1219C>T (p.Arg407Cys) rs782756293 0.00002
NM_001278116.2(L1CAM):c.3322+19G>A rs375076231 0.00002
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His) rs200402620 0.00001
NM_001278116.2(L1CAM):c.108C>T (p.Val36=)
NM_001278116.2(L1CAM):c.1297A>C (p.Asn433His)
NM_001278116.2(L1CAM):c.147C>T (p.Pro49=)
NM_001278116.2(L1CAM):c.1668C>T (p.Asp556=)
NM_001278116.2(L1CAM):c.1721G>A (p.Gly574Glu)
NM_001278116.2(L1CAM):c.2016G>A (p.Gln672=)
NM_001278116.2(L1CAM):c.2622C>T (p.Pro874=)
NM_001278116.2(L1CAM):c.3081G>T (p.Ala1027=) rs139393266
NM_001278116.2(L1CAM):c.3323-24dup rs782818719
NM_001278116.2(L1CAM):c.351C>T (p.Ser117=)
NM_001278116.2(L1CAM):c.3763G>A (p.Ala1255Thr)
NM_001278116.2(L1CAM):c.735C>T (p.Pro245=)

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