ClinVar Miner

List of variants in gene CNTNAP2 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283 0.00340
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670 0.00264
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073 0.00236
NM_014141.6(CNTNAP2):c.3305T>C (p.Val1102Ala) rs111599875 0.00235
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475 0.00035
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654 0.00029
NM_014141.6(CNTNAP2):c.3174C>G (p.Thr1058=) rs143226012 0.00026
NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys) rs141064983 0.00019
NM_014141.6(CNTNAP2):c.3903G>A (p.Ala1301=) rs146206159 0.00016
NM_014141.6(CNTNAP2):c.2706G>A (p.Pro902=) rs537291804 0.00007
NM_014141.6(CNTNAP2):c.3271C>G (p.Leu1091Val) rs756994633 0.00005
NM_014141.6(CNTNAP2):c.1435G>A (p.Ala479Thr) rs759244842 0.00003
NM_014141.6(CNTNAP2):c.3344T>C (p.Val1115Ala) rs757813902 0.00002
NM_014141.6(CNTNAP2):c.1402A>T (p.Asn468Tyr) rs1358247051 0.00001
NM_014141.6(CNTNAP2):c.1406T>C (p.Phe469Ser) rs568653133 0.00001
NM_014141.6(CNTNAP2):c.1422C>T (p.Ile474=) rs905342266 0.00001
NM_014141.6(CNTNAP2):c.1857C>T (p.Ser619=) rs753699122 0.00001
NM_014141.6(CNTNAP2):c.1989C>T (p.Leu663=) rs766429279 0.00001
NM_014141.6(CNTNAP2):c.3039G>A (p.Met1013Ile) rs745718727 0.00001
NM_014141.6(CNTNAP2):c.936T>C (p.Tyr312=) rs774997884 0.00001
GRCh37/hg19 7q35(chr7:146504465-146536996)x1
NM_014141.6(CNTNAP2):c.*5281G>A rs540704185
NM_014141.6(CNTNAP2):c.133dup (p.His45fs) rs2129185962
NM_014141.6(CNTNAP2):c.1487A>G (p.Tyr496Cys) rs1584856420
NM_014141.6(CNTNAP2):c.148A>G (p.Ser50Gly)
NM_014141.6(CNTNAP2):c.1794C>G (p.Ser598=) rs2116789280
NM_014141.6(CNTNAP2):c.2336G>C (p.Gly779Ala) rs200413148
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.252G>A (p.Trp84Ter) rs267601384
NM_014141.6(CNTNAP2):c.2698C>A (p.Arg900=) rs375318010
NM_014141.6(CNTNAP2):c.29G>A (p.Gly10Glu) rs886044541
NM_014141.6(CNTNAP2):c.3331C>T (p.Gln1111Ter) rs1159246607
NM_014141.6(CNTNAP2):c.3385G>A (p.Asp1129Asn) rs781236853
NM_014141.6(CNTNAP2):c.359C>T (p.Thr120Ile) rs1585116406
NM_014141.6(CNTNAP2):c.369C>T (p.Asn123=)
NM_014141.6(CNTNAP2):c.788C>G (p.Thr263Arg)

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.