List of variants in gene L1CAM reported as likely pathogenic for MASA syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001278116.2(L1CAM):c.1222A>G (p.Asn408Asp)	rs2064747653
NM_001278116.2(L1CAM):c.2596_2597del (p.Ile866fs)	rs2148494128
NM_001278116.2(L1CAM):c.32_33del (p.Leu11fs)	rs2064809181
NM_001278116.2(L1CAM):c.649A>G (p.Arg217Gly)	rs201204893

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