List of variants studied for complex cortical dysplasia with other brain malformations 3

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001098511.3(KIF2A):c.1027+21A>T	rs247266	0.58913
NM_001098511.3(KIF2A):c.65-20T>C	rs3213940	0.24224
NM_001098511.3(KIF2A):c.382T>C (p.Ser128Pro)	rs138408434	0.00067
NM_001098511.3(KIF2A):c.1064A>G (p.Tyr355Cys)	rs368021683	0.00005
NM_001098511.3(KIF2A):c.1246A>G (p.Ile416Val)
NM_001098511.3(KIF2A):c.1760+5A>G
NM_001098511.3(KIF2A):c.1A>G (p.Met1Val)
NM_001098511.3(KIF2A):c.2000G>A (p.Arg667Lys)
NM_001098511.3(KIF2A):c.2044G>A (p.Ala682Thr)	rs61748225
NM_001098511.3(KIF2A):c.217G>A (p.Glu73Lys)	rs1747667870
NM_001098511.3(KIF2A):c.224G>A (p.Ser75Asn)
NM_001098511.3(KIF2A):c.283C>T (p.Arg95Ter)	rs1580059038
NM_001098511.3(KIF2A):c.82A>G (p.Met28Val)	rs1747612077
NM_001098511.3(KIF2A):c.938G>A (p.Gly313Glu)	rs1561273261
NM_001098511.3(KIF2A):c.950G>A (p.Ser317Asn)	rs587777034
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile)	rs1554042050
NM_001098511.3(KIF2A):c.961C>G (p.His321Asp)	rs587777033

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