List of variants in gene L1CAM studied for X-linked complicated corpus callosum dysgenesis

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=)	rs201204893	0.00014
NM_001278116.2(L1CAM):c.3163G>A (p.Gly1055Arg)	rs1484399991	0.00001
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys)	rs367665974	0.00001
NM_001278116.2(L1CAM):c.1430A>C (p.Tyr477Ser)
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)	rs797045673
NM_001278116.2(L1CAM):c.2920G>T (p.Glu974Ter)	rs782712766
NM_001278116.2(L1CAM):c.3530+2T>C
NM_001278116.2(L1CAM):c.3754C>T (p.Pro1252Ser)	rs2064673421
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)	rs137852526

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