List of variants studied for central nervous system malformation by Genomic Medicine Lab, University of California San Francisco

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001044385.3(TMEM237):c.943+1G>T	rs748510210	0.00002
NM_001044385.3(TMEM237):c.869+1del	rs1311551510
NM_001199198.3(TBC1D23):c.1004G>T (p.Gly335Val)	rs367850996
NM_001368809.2(AMPD2):c.2110A>G (p.Met704Val)	rs1477045999
NM_001368809.2(AMPD2):c.2233C>G (p.Arg745Gly)	rs762954605
NM_003611.3(OFD1):c.2484dup (p.Glu829Ter)	rs2147060430
NM_005559.4(LAMA1):c.407T>C (p.Ile136Thr)	rs2144202750
NM_005559.4(LAMA1):c.8668C>T (p.Gln2890Ter)	rs2143969631
NM_016111.4(TELO2):c.967G>C (p.Ala323Pro)	rs750187494

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