List of variants reported as likely pathogenic for central nervous system malformation by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)	rs34647222	0.00014
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)	rs763596840
NM_002547.3(OPHN1):c.1202-1G>A	rs2147456067
NM_015272.5(RPGRIP1L):c.530-1G>C	rs2151325787
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)

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