List of variants studied for central nervous system malformation by GenomeConnect, ClinGen

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)	rs36027220	0.00400
NM_007055.4(POLR3A):c.1909+22G>A	rs191875469	0.00156
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	rs113994152	0.00092
NM_005559.4(LAMA1):c.1274G>C (p.Gly425Ala)	rs368665310	0.00009
NM_001099274.3(TINF2):c.936C>A (p.Tyr312Ter)	rs201677741	0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)	rs137853063	0.00006
NM_005027.4(PIK3R2):c.379C>T (p.Leu127Phe)	rs542398089	0.00006
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)	rs141659018	0.00004
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter)	rs201128942	0.00003
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs)	rs758991387	0.00002
NM_001272071.2(AP1S2):c.40C>T (p.Arg14Ter)	rs1555904878
NM_004958.4(MTOR):c.6674dup (p.Tyr2225Ter)	rs1642559236
NM_004958.4(MTOR):c.7391G>T (p.Gly2464Val)	rs1641758308
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)	rs1555582065
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)	rs386834148
NM_153816.6(SNX14):c.2557+1G>A	rs200277996
Single allele

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