ClinVar Miner

List of variants reported as pathogenic for L1 syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met) rs137852525 0.00001
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys) rs367665974 0.00001
L1CAM, 1.3-KB DUP
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) rs137852524
NM_001278116.2(L1CAM):c.1267+1G>A rs1557092247
NM_001278116.2(L1CAM):c.1268-1G>A rs1603275538
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) rs137852520
NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter) rs1064793163
NM_001278116.2(L1CAM):c.1417C>T (p.Arg473Cys) rs886039408
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter) rs886039407
NM_001278116.2(L1CAM):c.1672C>T (p.Arg558Ter) rs1557091773
NM_001278116.2(L1CAM):c.1703+5G>A
NM_001278116.2(L1CAM):c.1792G>A (p.Asp598Asn) rs137852519
NM_001278116.2(L1CAM):c.1939+5G>A rs879253716
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673
NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter)
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter) rs875989884
NM_001278116.2(L1CAM):c.2421_2422del (p.Gly808fs) rs879253715
NM_001278116.2(L1CAM):c.2432-19A>C rs879253713
NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs) rs1603274424
NM_001278116.2(L1CAM):c.2920G>T (p.Glu974Ter) rs782712766
NM_001278116.2(L1CAM):c.3046+1G>A rs1557090220
NM_001278116.2(L1CAM):c.3166+1G>A rs1603273984
NM_001278116.2(L1CAM):c.3234G>A (p.Trp1078Ter) rs2148493243
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.3638del (p.Gly1213fs)
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.630C>A (p.His210Gln) rs28933683
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.807-6G>A rs886039405
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) rs797044787

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