List of variants reported as pathogenic for central nervous system malformation by Dobyns Lab, Seattle Children's Research Institute

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001367721.1(CASK):c.2120dup (p.Tyr708fs)	rs1569295677
NM_001367721.1(CASK):c.533-2A>G	rs1569380062
NM_001367721.1(CASK):c.79C>T (p.Arg27Ter)	rs794727270
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)	rs180177041
NM_005559.3:c.2988_2989delA
NM_005559.4(LAMA1):c.2816_2817del (p.Tyr939fs)	rs587777680
NM_005559.4(LAMA1):c.555T>G (p.Tyr185Ter)	rs587777681
NM_005559.4(LAMA1):c.588+2T>G	rs587777677
NM_005559.4(LAMA1):c.6345+3G>C	rs797045184
NM_005559.4(LAMA1):c.6701del (p.Pro2234fs)	rs797045182
NM_005559.4(LAMA1):c.7965-15_7965-3del	rs587777678
Single allele

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