ClinVar Miner

List of variants in gene L1CAM studied for X-linked disease

Included ClinVar conditions (313):
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Total variants: 27
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HGVS dbSNP
L1CAM, 1.3-KB DUP
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) rs137852524
NM_001278116.2(L1CAM):c.1268-1G>A rs1603275538
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) rs137852520
NM_001278116.2(L1CAM):c.1570C>T (p.Pro524Ser) rs1569544754
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly) rs886041102
NM_001278116.2(L1CAM):c.1792G>A (p.Asp598Asn) rs137852519
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter) rs875989884
NM_001278116.2(L1CAM):c.2432-19A>C rs879253713
NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs) rs1603274424
NM_001278116.2(L1CAM):c.3163G>A (p.Gly1055Arg) rs1484399991
NM_001278116.2(L1CAM):c.3166+1G>A rs1603273984
NM_001278116.2(L1CAM):c.3458-1G>C rs879253724
NM_001278116.2(L1CAM):c.3489_3490del (p.Glu1164fs) rs879253714
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.3654G>C (p.Gln1218His) rs1369743518
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile) rs1603277433
NM_001278116.2(L1CAM):c.536T>G (p.Ile179Ser) rs137852523
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) rs137852521
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.704T>C (p.Met235Thr) rs1557092782
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278116.2(L1CAM):c.749del (p.Ser250fs) rs1603276024
NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr) rs137852518
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) rs797044787

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