List of variants reported as pathogenic for central nervous system malformation by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)	rs141138948	0.00048
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)	rs139632595	0.00026
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter)	rs199835443	0.00004
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)	rs387907196	0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs)	rs771454167	0.00002
NM_001134831.2(AHI1):c.2266+1G>A
NM_001368809.2(AMPD2):c.2165T>G (p.Leu722Arg)	rs1553230375
NM_006218.4(PIK3CA):c.1346C>T (p.Pro449Leu)
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)	rs1555582065
NM_020320.5(RARS2):c.1237+1G>A	rs759922477
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)	rs62640570

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