ClinVar Miner

List of variants studied for MASA syndrome

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=) rs201204893 0.00014
NM_001278116.2(L1CAM):c.3654G>C (p.Gln1218His) rs1369743518 0.00001
NM_001278116.2(L1CAM):c.1100G>A (p.Arg367Lys) rs2064751060
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) rs137852524
NM_001278116.2(L1CAM):c.1222A>G (p.Asn408Asp) rs2064747653
NM_001278116.2(L1CAM):c.1672C>T (p.Arg558Ter) rs1557091773
NM_001278116.2(L1CAM):c.1792G>A (p.Asp598Asn) rs137852519
NM_001278116.2(L1CAM):c.2596_2597del (p.Ile866fs) rs2148494128
NM_001278116.2(L1CAM):c.2599C>T (p.His867Tyr) rs2064704352
NM_001278116.2(L1CAM):c.3234G>A (p.Trp1078Ter) rs2148493243
NM_001278116.2(L1CAM):c.32_33del (p.Leu11fs) rs2064809181
NM_001278116.2(L1CAM):c.3489_3490del (p.Glu1164fs) rs879253714
NM_001278116.2(L1CAM):c.3531-1G>A rs2148492410
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.3755C>A (p.Pro1252His) rs2148491854
NM_001278116.2(L1CAM):c.536T>G (p.Ile179Ser) rs137852523
NM_001278116.2(L1CAM):c.630C>A (p.His210Gln) rs28933683
NM_001278116.2(L1CAM):c.649A>G (p.Arg217Gly) rs201204893

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