List of variants studied for central nervous system malformation by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	rs113994152	0.00092
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_020320.5(RARS2):c.773G>A (p.Arg258His)	rs145297855	0.00044
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)	rs138249161	0.00031
NM_014008.5(CCDC22):c.1212+4G>T	rs782736581	0.00004
NM_025265.4(TSEN2):c.1048C>T (p.Arg350Ter)	rs201467485	0.00004
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)	rs781252161	0.00001
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His)	rs1023010218	0.00001
NM_025077.4(TOE1):c.544C>T (p.Arg182Ter)	rs752569685	0.00001
NM_001367721.1(CASK):c.2080C>T (p.Gln694Ter)
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs)	rs386833765
NM_005559.4(LAMA1):c.5108dup (p.Glu1704fs)
NM_006218.4(PIK3CA):c.1345C>A (p.Pro449Thr)	rs1724674149
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys)	rs2147938135
NM_018082.6(POLR3B):c.2511del (p.Ile838fs)
NM_020320.5(RARS2):c.536-1G>A
NM_025114.4(CEP290):c.1189+1G>A	rs2039659434
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)	rs1213286417
NM_138773.4(SLC25A46):c.479G>A (p.Trp160Ter)	rs1561602892

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