ClinVar Miner

List of variants in gene CNTNAP2 reported by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.2099-26267A>G rs2710102 0.56294
NM_014141.6(CNTNAP2):c.208+18133A>T rs7794745 0.48764
NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr) rs121908445 0.00018
NM_014141.6(CNTNAP2):c.3046C>T (p.Arg1016Ter) rs371642222 0.00001
NM_014141.5(CNTNAP2):c.(?_550)+15275_(1349_?)-61303del
NM_014141.6(CNTNAP2):c.1480G>T (p.Glu494Ter) rs149032771
NM_014141.6(CNTNAP2):c.1671-1G>T rs730880276
NM_014141.6(CNTNAP2):c.2046C>A (p.Cys682Ter) rs201076428
NM_014141.6(CNTNAP2):c.3709del (p.Asp1237fs) rs730880275

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