ClinVar Miner

List of variants studied for MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.2657G>A (p.Arg886Gln) rs142603269 0.00028
NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met) rs201151358 0.00027
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg) rs781814421 0.00007
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.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.2575_2576del (p.Arg859fs)
NM_001278116.2(L1CAM):c.3047-2A>T
NM_001278116.2(L1CAM):c.3170_3174del
NM_001278116.2(L1CAM):c.3271_3300del (p.Phe1091_Met1100del)
NM_001278116.2(L1CAM):c.421_425dup (p.Val143fs)
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) rs1603276146
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278116.2(L1CAM):c.807-6G>A rs886039405
NM_001278116.2(L1CAM):c.913G>A (p.Glu305Lys)
NM_001278116.2(L1CAM):c.985G>A (p.Val329Met) rs2148497835

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