List of variants studied for X-linked hydrocephalus syndrome by OMIM

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
L1CAM, 1.3-KB DUP
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg)	rs137852520
NM_001278116.2(L1CAM):c.1939+5G>A	rs879253716
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met)	rs137852525
NM_001278116.2(L1CAM):c.2421_2422del (p.Gly808fs)	rs879253715
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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