ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.1447C>T (p.Arg483Ter) rs752550849 0.00001
NM_014141.6(CNTNAP2):c.2153G>A (p.Trp718Ter) rs398124268 0.00001
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs) rs1391540245 0.00001
NM_014141.6(CNTNAP2):c.3046C>T (p.Arg1016Ter) rs371642222 0.00001
NM_014141.6(CNTNAP2):c.3283C>T (p.Arg1095Ter) rs771533907 0.00001
NM_014141.6(CNTNAP2):c.3480_3481del (p.Gly1161fs) rs771827120 0.00001
GRCh37/hg19 7q35(chr7:146997280-146997587)
GRCh38/hg38 7q35(chr7:147043810-147167670)x0
GRCh38/hg38 7q36.1(chr7:148383649-148383888)x1
NC_000007.13:g.(146536997_146740998)_(146741147_146805238)del
NC_000007.13:g.(?_145813969)_(145814085_?)del
NC_000007.13:g.(?_145813969)_(146537016_?)del
NC_000007.13:g.(?_145813969)_(148112708_?)del
NC_000007.13:g.(?_146471353)_(146537006_?)del
NC_000007.13:g.(?_146536783)_(146537016_?)del
NC_000007.13:g.(?_146740979)_(146829621_?)del
NC_000007.13:g.(?_146740989)_(146741156_?)del
NC_000007.13:g.(?_147183007)_(147183153_?)del
NC_000007.14:g.(?_146116001)_(146116993_?)del
NC_000007.14:g.(?_146774251)_(146839924_?)del
NC_000007.14:g.(?_147043887)_(147044074_?)del
NC_000007.14:g.(?_147043887)_(147300310_?)del
NC_000007.14:g.(?_147132225)_(147132529_?)del
NC_000007.14:g.(?_147300121)_(147395800_?)del
NM_014141.5(CNTNAP2):c.(?_550)+15275_(1349_?)-61303del
NM_014141.6(CNTNAP2):c.1108G>T (p.Glu370Ter)
NM_014141.6(CNTNAP2):c.1295del (p.Gly432fs) rs1801395870
NM_014141.6(CNTNAP2):c.1361_1362del (p.Asn454fs) rs1794916576
NM_014141.6(CNTNAP2):c.1399G>T (p.Glu467Ter) rs986848347
NM_014141.6(CNTNAP2):c.1480G>T (p.Glu494Ter) rs149032771
NM_014141.6(CNTNAP2):c.1671-1G>T rs730880276
NM_014141.6(CNTNAP2):c.1680del (p.Asn561fs)
NM_014141.6(CNTNAP2):c.1689_1690del (p.Cys563_Glu564delinsTer) rs1554490549
NM_014141.6(CNTNAP2):c.1777+2T>C
NM_014141.6(CNTNAP2):c.1807A>T (p.Lys603Ter)
NM_014141.6(CNTNAP2):c.1843dup (p.Asp615fs) rs2116789389
NM_014141.6(CNTNAP2):c.2011C>T (p.Gln671Ter) rs2116924115
NM_014141.6(CNTNAP2):c.2046C>A (p.Cys682Ter) rs201076428
NM_014141.6(CNTNAP2):c.2101G>T (p.Gly701Ter)
NM_014141.6(CNTNAP2):c.2117G>A (p.Trp706Ter) rs1799910521
NM_014141.6(CNTNAP2):c.2151C>A (p.Tyr717Ter) rs2116752243
NM_014141.6(CNTNAP2):c.2197G>T (p.Glu733Ter)
NM_014141.6(CNTNAP2):c.2217_2227del (p.Pro739_Lys740insTer) rs1585020100
NM_014141.6(CNTNAP2):c.2396del (p.Asn799fs) rs2116608214
NM_014141.6(CNTNAP2):c.252G>A (p.Trp84Ter) rs267601384
NM_014141.6(CNTNAP2):c.2569del (p.Ser857fs)
NM_014141.6(CNTNAP2):c.2646G>A (p.Trp882Ter) rs1247068015
NM_014141.6(CNTNAP2):c.3256C>T (p.Gln1086Ter)
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter) rs766777011
NM_014141.6(CNTNAP2):c.3331C>T (p.Gln1111Ter) rs1159246607
NM_014141.6(CNTNAP2):c.3556dup (p.Gln1186fs) rs772883080
NM_014141.6(CNTNAP2):c.3588_3591del (p.Asn1198fs) rs746615217
NM_014141.6(CNTNAP2):c.3693dup (p.His1232fs)
NM_014141.6(CNTNAP2):c.3709del (p.Asp1237fs) rs730880275
NM_014141.6(CNTNAP2):c.401G>A (p.Trp134Ter) rs1458942108
NM_014141.6(CNTNAP2):c.402G>A (p.Trp134Ter)
NM_014141.6(CNTNAP2):c.431dup (p.Val145fs)
NM_014141.6(CNTNAP2):c.481dup (p.Ile161fs) rs1799307071
NM_014141.6(CNTNAP2):c.551G>A (p.Trp184Ter) rs2129279519
NM_014141.6(CNTNAP2):c.610A>T (p.Lys204Ter)
NM_014141.6(CNTNAP2):c.636del (p.Ile212fs) rs1584848275
NM_014141.6(CNTNAP2):c.648dup (p.Lys217Ter) rs2129279547
NM_014141.6(CNTNAP2):c.655del (p.Ser219fs) rs2129279551
NM_014141.6(CNTNAP2):c.682G>T (p.Gly228Ter) rs371512835
NM_014141.6(CNTNAP2):c.773_774dup (p.Ile259fs)
NM_014141.6(CNTNAP2):c.782_783insGA (p.His262fs) rs2129282705
NM_014141.6(CNTNAP2):c.797del (p.Met266fs)
NM_014141.6(CNTNAP2):c.97+1G>A rs972116002

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