ClinVar Miner

List of variants reported as pathogenic for Pitt-Hopkins-like syndrome by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NC_000002.11:g.(?_50280389)_(50282202_?)del
NC_000002.11:g.(?_50692560)_(51259192_?)del
NC_000002.11:g.(?_50755743)_(50780183_?)del
NC_000002.11:g.(?_50765371)_(50780183_?)del
NC_000002.11:g.(?_51148987)_(51259192_?)del
NC_000002.11:g.(?_51253489)_(51259192_?)del
NC_000007.13:g.(?_145813093)_(145814085_?)del
NC_000007.13:g.(?_146740979)_(146741166_?)del
NC_000007.13:g.(?_146829317)_(146829621_?)del
NC_000007.13:g.(?_146997233)_(147092872_?)del
NM_001330078.2(NRXN1):c.3876del (p.Phe1293fs)
NM_014141.6(CNTNAP2):c.1447C>T (p.Arg483Ter) rs752550849
NM_014141.6(CNTNAP2):c.1687_1688TG[1] (p.Cys563_Glu564delinsTer) rs1554490549
NM_014141.6(CNTNAP2):c.2153G>A (p.Trp718Ter) rs398124268
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs) rs1391540245
NM_014141.6(CNTNAP2):c.3480_3481del (p.Gly1161fs) rs771827120
NM_014141.6(CNTNAP2):c.636del (p.Ile212fs)

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