ClinVar Miner

List of variants studied for Cortical dysplasia-focal epilepsy syndrome by Revvity Omics, Revvity

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Total variants: 28
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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.3180G>A (p.Ala1060=) rs372645983 0.00005
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.2884G>T (p.Gly962Ter) rs749575477
NM_014141.6(CNTNAP2):c.3197A>G (p.Tyr1066Cys) rs1795664797
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter) rs766777011
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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