List of variants reported as likely pathogenic for central nervous system malformation by New York Genome Center

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.6645+1G>A	rs201218801	0.00006
NM_020320.5(RARS2):c.1312A>T (p.Lys438Ter)	rs1419422047	0.00001
NM_001134831.2(AHI1):c.430del (p.Glu144fs)	rs2128098409
NM_004958.4(MTOR):c.1816T>C (p.Cys606Arg)	rs2100901805
NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs)	rs781277383

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