ClinVar Miner

List of variants studied for X-linked complicated corpus callosum dysgenesis by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.3760G>A (p.Val1254Met) rs200498314 0.00006
NM_001278116.2(L1CAM):c.1220G>A (p.Arg407His) rs139197516 0.00004
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.913G>A (p.Glu305Lys)

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