List of variants reported as likely pathogenic for central nervous system malformation by Mendelics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)	rs34647222	0.00014
NM_022914.2(ACD):c.137delG (p.Arg46Leufs)	rs753666055	0.00004
NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr)	rs755786784	0.00001
NM_020320.5(RARS2):c.1282G>A (p.Gly428Arg)	rs764875815	0.00001
NM_001077446.4(TSEN34):c.862_865dup (p.Leu289fs)	rs1246937494
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
NM_001134831.2(AHI1):c.1205del (p.Pro402fs)	rs794729195
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp)	rs1114167352
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter)	rs1555981717
NM_001367721.1(CASK):c.787G>A (p.Glu263Lys)	rs1602424843
NM_004958.4(MTOR):c.4298T>C (p.Leu1433Ser)	rs2100609915
NM_020320.5(RARS2):c.449T>C (p.Ile150Thr)	rs1582576986
NM_207346.3(TSEN54):c.249G>A (p.Arg83=)	rs2147006296

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