List of variants in gene L1CAM reported as pathogenic for X-linked hydrocephalus syndrome

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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 11

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HGVS	dbSNP
L1CAM, 1.3-KB DUP
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg)	rs137852520
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.3458-1G>C	rs879253724
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)	rs137852522
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln)	rs137852521
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu)	rs137852526
NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr)	rs137852518
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=)	rs797044787

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