List of variants reported as pathogenic for central nervous system malformation by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)	rs202020308	0.00016
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)	rs371675497	0.00010
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val)	rs878853271	0.00003
NM_016111.4(TELO2):c.1826G>A (p.Arg609His)	rs754162070	0.00001
NM_016111.4(TELO2):c.779C>T (p.Pro260Leu)	rs369656775	0.00001
NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter)	rs796065045
NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs)	rs869312909
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)	rs869312911
NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs)	rs773656789
NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter)	rs869312910
NM_016111.3(TELO2):c.[514C>T;2034+1G>A]

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