ClinVar Miner

List of variants studied for MASA syndrome

Included ClinVar conditions (3):
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Total variants: 48
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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.649A>C (p.Arg217=) rs201204893 0.00014
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.2179G>A (p.Glu727Lys) rs1386982536 0.00001
NM_001278116.2(L1CAM):c.3118G>A (p.Glu1040Lys) rs1557090130 0.00001
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.1224C>G (p.Asn408Lys) rs994675918
NM_001278116.2(L1CAM):c.1228C>G (p.His410Asp)
NM_001278116.2(L1CAM):c.1292C>T (p.Ala431Val)
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.1891G>T (p.Val631Leu)
NM_001278116.2(L1CAM):c.2434C>G (p.Pro812Ala)
NM_001278116.2(L1CAM):c.2515G>C (p.Ala839Pro)
NM_001278116.2(L1CAM):c.2516_2517delinsAT (p.Ala839Asp) rs2148494375
NM_001278116.2(L1CAM):c.2575_2576del (p.Arg859fs)
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.2848_2849del (p.Gly950fs)
NM_001278116.2(L1CAM):c.3047-2A>T
NM_001278116.2(L1CAM):c.3170_3174del
NM_001278116.2(L1CAM):c.3233G>A (p.Trp1078Ter)
NM_001278116.2(L1CAM):c.3234G>A (p.Trp1078Ter) rs2148493243
NM_001278116.2(L1CAM):c.3271_3300del (p.Phe1091_Met1100del)
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.3589G>A (p.Gly1197Arg)
NM_001278116.2(L1CAM):c.3665A>G (p.Asp1222Gly)
NM_001278116.2(L1CAM):c.3755C>A (p.Pro1252His) rs2148491854
NM_001278116.2(L1CAM):c.3760G>A (p.Val1254Met)
NM_001278116.2(L1CAM):c.421_425dup (p.Val143fs)
NM_001278116.2(L1CAM):c.536T>G (p.Ile179Ser) rs137852523
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) rs1603276146
NM_001278116.2(L1CAM):c.630C>A (p.His210Gln) rs28933683
NM_001278116.2(L1CAM):c.649A>G (p.Arg217Gly) rs201204893
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278116.2(L1CAM):c.807-6G>A rs886039405
NM_001278116.2(L1CAM):c.892C>G (p.Gln298Glu)
NM_001278116.2(L1CAM):c.913G>A (p.Glu305Lys)
NM_001278116.2(L1CAM):c.985G>A (p.Val329Met) rs2148497835

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