ClinVar Miner

List of variants in gene CNTNAP2 reported as pathogenic by GeneDx

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs) rs1391540245 0.00001
NM_014141.6(CNTNAP2):c.3283C>T (p.Arg1095Ter) rs771533907 0.00001
GRCh37/hg19 7q35(chr7:146471120-146471642)x1
NM_014141.6(CNTNAP2):c.1076C>G (p.Ser359Ter) rs1057520743
NM_014141.6(CNTNAP2):c.1346C>G (p.Ser449Ter) rs796052374
NM_014141.6(CNTNAP2):c.1671-1G>T rs730880276
NM_014141.6(CNTNAP2):c.1689_1690del (p.Cys563_Glu564delinsTer) rs1554490549
NM_014141.6(CNTNAP2):c.1819C>T (p.Gln607Ter) rs886041991
NM_014141.6(CNTNAP2):c.1977_1989del (p.Val660fs) rs1064796221
NM_014141.6(CNTNAP2):c.2050C>T (p.Gln684Ter) rs1057520549
NM_014141.6(CNTNAP2):c.3709del (p.Asp1237fs) rs730880275
NM_014141.6(CNTNAP2):c.851del (p.Gln284fs) rs796052388

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