ClinVar Miner

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

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_014141.6(CNTNAP2):c.2099-15T>C rs75858942 0.04429
NM_014141.6(CNTNAP2):c.*3531G>A rs79360609 0.04371
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128 0.03626
NM_014141.6(CNTNAP2):c.*3392C>T rs115420302 0.02775
NM_014141.6(CNTNAP2):c.*3540G>A rs114585910 0.02773
NM_014141.6(CNTNAP2):c.*2151A>G rs28369221 0.02742
NM_014141.6(CNTNAP2):c.3476-15C>A rs77706740 0.02606
NM_014141.6(CNTNAP2):c.*2875dup rs138367128 0.02522
NM_014141.6(CNTNAP2):c.*1017T>G rs77001133 0.02487
NM_014141.6(CNTNAP2):c.3797-6C>T rs79777576 0.01899
NM_014141.6(CNTNAP2):c.*3921G>A rs141005348 0.01856
NM_014141.6(CNTNAP2):c.*2665C>T rs7791181 0.01854
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853 0.01773
NM_014141.6(CNTNAP2):c.*48G>A rs78018010 0.01715
NM_014141.6(CNTNAP2):c.*1433A>G rs78484397 0.01362
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849 0.01075
NM_001330078.2(NRXN1):c.*941dup rs3839057
NM_014141.6(CNTNAP2):c.*1276_*1280dup rs369615005
NM_014141.6(CNTNAP2):c.*818dup rs145690138
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537

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