ClinVar Miner

List of variants in gene CNTNAP2 reported as pathogenic for Rolandic epilepsy

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Total variants: 6
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HGVS dbSNP
NM_014141.6(CNTNAP2):c.1249G>T (p.Asp417Tyr) rs147815978
NM_014141.6(CNTNAP2):c.2147A>G (p.Tyr716Cys) rs760930032
NM_014141.6(CNTNAP2):c.2290C>A (p.His764Asn) rs201446615
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln) rs758630057
NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr) rs751491210
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346

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