List of variants in gene L1CAM reported as uncertain significance for MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus 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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg)	rs781814421	0.00007
NM_001278116.2(L1CAM):c.1220G>A (p.Arg407His)	rs139197516	0.00004
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp)	rs201978087	0.00003
NM_001278116.2(L1CAM):c.1433C>A (p.Ala478Asp)	rs1298830102	0.00002
NM_001278116.2(L1CAM):c.2515G>C (p.Ala839Pro)	rs782149002	0.00002
NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu)	rs202074293	0.00002
NM_001278116.2(L1CAM):c.2179G>A (p.Glu727Lys)	rs1386982536	0.00001
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys)	rs1557090130	0.00001
NM_001278116.2(L1CAM):c.1224C>G (p.Asn408Lys)	rs994675918
NM_001278116.2(L1CAM):c.2434C>G (p.Pro812Ala)	rs2520978759
NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp)	rs2148494375
NM_001278116.2(L1CAM):c.3271_3300del (p.Phe1091_Met1100del)
NM_001278116.2(L1CAM):c.913G>A (p.Glu305Lys)
NM_001278116.2(L1CAM):c.985G>A (p.Val329Met)	rs2148497835

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