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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro)	rs1011320	0.95640
NM_002449.5(MSX2):c.386T>C (p.Met129Thr)	rs4242182	0.78320
NM_002449.5(MSX2):c.380-164G>A	rs4867776	0.58905
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)	rs9911502	0.58492
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=)	rs1127446	0.32239
NM_005559.4(LAMA1):c.4729T>G (p.Ser1577Ala)	rs12961939	0.21927
NM_005559.4(LAMA1):c.2021A>C (p.Asn674Thr)	rs566655	0.20323
NM_207346.3(TSEN54):c.114T>G (p.His38Gln)	rs8079373	0.19277
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val)	rs3743601	0.10494
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])	rs398124622	0.06994
NM_138959.3(VANGL1):c.248C>T (p.Ser83Leu)	rs146695372	0.00010
NM_138959.3(VANGL1):c.518G>A (p.Arg173His)	rs148341022	0.00003
NM_005559.4(LAMA1):c.2274+70dup	rs113133818

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