ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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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.1335C>T (p.Ile445=) rs749205725
NM_014141.6(CNTNAP2):c.1569C>A (p.Leu523=) rs1374907989
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128
NM_014141.6(CNTNAP2):c.1851T>C (p.Asp617=) rs150218065
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849
NM_014141.6(CNTNAP2):c.2043C>T (p.Tyr681=) rs779865638
NM_014141.6(CNTNAP2):c.2055T>C (p.Tyr685=) rs376744436
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.2436C>T (p.Phe812=) rs1554474094
NM_014141.6(CNTNAP2):c.2928T>C (p.Asn976=) rs765953292
NM_014141.6(CNTNAP2):c.3180G>C (p.Ala1060=) rs372645983
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853
NM_014141.6(CNTNAP2):c.3252C>T (p.Ser1084=) rs893619983
NM_014141.6(CNTNAP2):c.3417A>G (p.Pro1139=) rs368474520
NM_014141.6(CNTNAP2):c.3476-15C>A rs77706740
NM_014141.6(CNTNAP2):c.3738T>C (p.Asn1246=) rs763106283
NM_014141.6(CNTNAP2):c.3797-5G>C rs745770134
NM_014141.6(CNTNAP2):c.3797-6C>T rs79777576
NM_014141.6(CNTNAP2):c.3990C>G (p.Leu1330=) rs1057522590
NM_014141.6(CNTNAP2):c.3990C>T (p.Leu1330=) rs1057522590

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