ClinVar Miner

List of variants studied for X-linked complicated corpus callosum dysgenesis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) rs142603269 0.00032
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) rs201151358 0.00027
NM_001278116.2(L1CAM):c.385C>T (p.Arg129Trp) rs201978087 0.00003
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) rs1557090130 0.00001
NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp) rs2148494375

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