ClinVar Miner

List of variants in gene CNTNAP2 reported as pathogenic for Pitt-Hopkins-like syndrome 1

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Total variants: 17
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HGVS dbSNP
NC_000007.13:g.(?_145813093)_(145814085_?)del
NC_000007.13:g.(?_146740979)_(146741166_?)del
NC_000007.13:g.(?_146829317)_(146829621_?)del
NM_014141.5(CNTNAP2):c.(?_550)+15275_(1349_?)-61303del
NM_014141.6(CNTNAP2):c.1447C>T (p.Arg483Ter) rs752550849
NM_014141.6(CNTNAP2):c.1480G>T (p.Glu494Ter) rs149032771
NM_014141.6(CNTNAP2):c.1671-1G>T rs730880276
NM_014141.6(CNTNAP2):c.1687_1688TG[1] (p.Cys563_Glu564delinsTer) rs1554490549
NM_014141.6(CNTNAP2):c.2046C>A (p.Cys682Ter) rs201076428
NM_014141.6(CNTNAP2):c.2153G>A (p.Trp718Ter) rs398124268
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs) rs1391540245
NM_014141.6(CNTNAP2):c.2964del (p.Cys989fs) rs1554400338
NM_014141.6(CNTNAP2):c.3046C>T (p.Arg1016Ter) rs371642222
NM_014141.6(CNTNAP2):c.3480_3481del (p.Gly1161fs) rs771827120
NM_014141.6(CNTNAP2):c.3709del (p.Asp1237fs) rs730880275
NM_014141.6(CNTNAP2):c.636del (p.Ile212fs)
NM_014141.6(CNTNAP2):c.97+1G>A

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