List of variants in gene L1CAM reported as pathogenic for L1 syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)	rs367665974	0.00001
NM_001278116.2(L1CAM):c.1267+1G>A	rs1557092247
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg)	rs137852520
NM_001278116.2(L1CAM):c.1417C>T (p.Arg473Cys)	rs886039408
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)	rs797045673
NM_001278116.2(L1CAM):c.3166+1G>A	rs1603273984
NM_001278116.2(L1CAM):c.3638del (p.Gly1213fs)
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln)	rs137852521
NM_001278116.2(L1CAM):c.749del (p.Ser250fs)	rs1603276024
NM_001278116.2(L1CAM):c.807-6G>A	rs886039405

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