List of variants reported as uncertain significance for Cortical dysplasia-focal epilepsy syndrome by Revvity Omics, Revvity

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)	rs200866893	0.00101
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)	rs138481453	0.00096
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His)	rs73464271	0.00086
NM_014141.6(CNTNAP2):c.515T>C (p.Ile172Thr)	rs201326295	0.00017
NM_014141.6(CNTNAP2):c.2038G>A (p.Glu680Lys)	rs368905425	0.00010
NM_014141.6(CNTNAP2):c.3304G>A (p.Val1102Ile)	rs773399465	0.00007
NM_014141.6(CNTNAP2):c.857G>A (p.Arg286Gln)	rs375721700	0.00005
NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly)	rs587780320	0.00003
NM_014141.6(CNTNAP2):c.338A>G (p.Tyr113Cys)	rs779208613	0.00002
NM_014141.6(CNTNAP2):c.1633G>A (p.Ala545Thr)	rs747922335	0.00001
NM_014141.6(CNTNAP2):c.3476-7C>T	rs1057520468	0.00001
NM_014141.6(CNTNAP2):c.755-3C>T	rs780336361	0.00001
NM_014141.6(CNTNAP2):c.1096T>C (p.Phe366Leu)
NM_014141.6(CNTNAP2):c.1530C>A (p.His510Gln)
NM_014141.6(CNTNAP2):c.1898-278_1898-276del
NM_014141.6(CNTNAP2):c.2456C>T (p.Thr819Ile)
NM_014141.6(CNTNAP2):c.2744G>A (p.Arg915His)	rs369919189
NM_014141.6(CNTNAP2):c.286A>G (p.Ser96Gly)	rs540745201
NM_014141.6(CNTNAP2):c.3197A>G (p.Tyr1066Cys)	rs1795664797
NM_014141.6(CNTNAP2):c.3476-4T>C
NM_014141.6(CNTNAP2):c.3679G>A (p.Ala1227Thr)	rs761684414
NM_014141.6(CNTNAP2):c.3781T>G (p.Ser1261Ala)	rs754580386
NM_014141.6(CNTNAP2):c.681C>A (p.His227Gln)	rs142984073
NM_014141.6(CNTNAP2):c.789A>G (p.Thr263=)
NM_014141.6(CNTNAP2):c.845A>G (p.Glu282Gly)	rs2129282723

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