ClinVar Miner

List of variants in gene CNTNAP2 studied for brain disorder

Included ClinVar conditions (1834):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln) rs758630057 0.00048
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_014141.6(CNTNAP2):c.402+8A>G rs201311931 0.00006
NM_014141.6(CNTNAP2):c.1249G>T (p.Asp417Tyr) rs147815978 0.00003
NM_014141.6(CNTNAP2):c.2147A>G (p.Tyr716Cys) rs760930032 0.00002
NM_014141.6(CNTNAP2):c.2290C>A (p.His764Asn) rs201446615 0.00001
NM_014141.6(CNTNAP2):c.3046C>T (p.Arg1016Ter) rs371642222 0.00001
NM_014141.6(CNTNAP2):c.3527C>T (p.Thr1176Ile) rs746520358 0.00001
NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr) rs751491210 0.00001
GRCh38/hg38 7q35(chr7:146320644-146339450)
NC_000007.14:g.(?_148411122)_(148421361_?)dup
NM_014141.6(CNTNAP2):c.1348+54355_1348+54568del
NM_014141.6(CNTNAP2):c.1498+47142_1498+47201del
NM_014141.6(CNTNAP2):c.1778-1G>C rs1396313317
NM_014141.6(CNTNAP2):c.3679G>A (p.Ala1227Thr) rs761684414
NM_014141.6(CNTNAP2):c.682G>A (p.Gly228Arg) rs371512835
NM_014141.6(CNTNAP2):c.97+3A>T rs1584757170
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.