List of variants studied for complex cortical dysplasia with other brain malformations by Baylor Genetics

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_006086.4(TUBB3):c.921C>T (p.His307=)	rs147283850	0.00083
NM_018943.3(TUBA8):c.958C>T (p.Arg320Trp)	rs140202346	0.00019
NM_018943.3(TUBA8):c.967G>A (p.Val323Met)	rs151102020	0.00019
NM_018943.3(TUBA8):c.5G>A (p.Arg2Gln)	rs761087286	0.00007
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val)	rs2808001	0.00003
NM_018943.3(TUBA8):c.727C>T (p.Arg243Cys)	rs762265885	0.00003
NM_001282597.3(CTNNA2):c.1450G>A (p.Val484Ile)	rs753989146	0.00001
NM_001069.3(TUBB2A):c.1073C>T (p.Pro358Leu)	rs1762593142
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg)	rs1064795334
NM_001069.3(TUBB2A):c.5G>A (p.Arg2His)	rs1581499166
NM_001098511.3(KIF2A):c.1A>G (p.Met1Val)
NM_001098511.3(KIF2A):c.217G>A (p.Glu73Lys)	rs1747667870
NM_001282597.3(CTNNA2):c.718del (p.Arg240fs)
NM_004522.3(KIF5C):c.571C>T (p.Arg191Ter)
NM_004522.3(KIF5C):c.610A>G (p.Arg204Gly)
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)	rs587777570
NM_005883.3(APC2):c.1796G>A (p.Ser599Asn)
NM_005883.3(APC2):c.3241C>G (p.Arg1081Gly)
NM_006086.4(TUBB3):c.350T>C (p.Leu117Pro)
NM_006086.4(TUBB3):c.446C>T (p.Thr149Met)	rs2030399551
NM_006086.4(TUBB3):c.689C>T (p.Ser230Leu)	rs886041459
NM_006086.4(TUBB3):c.982G>A (p.Glu328Lys)	rs1057518686
NM_015656.2(KIF26A):c.3335C>T (p.Ser1112Phe)
NM_015656.2(KIF26A):c.4676C>T (p.Ala1559Val)
NM_178012.5(TUBB2B):c.1070C>T (p.Pro357Leu)	rs1581525728
NM_178012.5(TUBB2B):c.761C>A (p.Ala254Glu)	rs1757274660
NM_178014.4(TUBB):c.244G>C (p.Gly82Arg)	rs1776397001
NM_178014.4(TUBB):c.599A>G (p.Tyr200Cys)	rs1776439193
NM_178014.4(TUBB):c.860C>T (p.Pro287Leu)	rs1554202416

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