List of variants reported as likely pathogenic for central nervous system malformation by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)	rs137852832	0.00006
NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs)	rs1569288603
NM_002547.3(OPHN1):c.1105-13_1109del	rs2077502210
NM_014875.3(KIF14):c.1514T>C (p.Leu505Pro)	rs1660016633
NM_153816.6(SNX14):c.1725del (p.Phe575fs)	rs1311909367

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