ClinVar Miner

List of variants in gene CNTNAP2 reported as likely benign for Pitt-Hopkins-like syndrome

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Total variants: 20
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HGVS dbSNP
NM_014141.6(CNTNAP2):c.*1017T>G rs77001133
NM_014141.6(CNTNAP2):c.*1276_*1280dup rs369615005
NM_014141.6(CNTNAP2):c.*1433A>G rs78484397
NM_014141.6(CNTNAP2):c.*2151A>G rs28369221
NM_014141.6(CNTNAP2):c.*2665C>T rs7791181
NM_014141.6(CNTNAP2):c.*2875dup rs138367128
NM_014141.6(CNTNAP2):c.*3392C>T rs115420302
NM_014141.6(CNTNAP2):c.*3531G>A rs79360609
NM_014141.6(CNTNAP2):c.*3540G>A rs114585910
NM_014141.6(CNTNAP2):c.*3921G>A rs141005348
NM_014141.6(CNTNAP2):c.*48G>A rs78018010
NM_014141.6(CNTNAP2):c.*818dup rs145690138
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849
NM_014141.6(CNTNAP2):c.2099-15T>C rs75858942
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853
NM_014141.6(CNTNAP2):c.3476-15C>A rs77706740
NM_014141.6(CNTNAP2):c.3797-6C>T rs79777576

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