ClinVar Miner

List of variants in gene CNTNAP2 reported as benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031
NM_014141.6(CNTNAP2):c.3381+17A>C rs3779032
NM_014141.6(CNTNAP2):c.3382-7C>T rs189589051
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691
NM_014141.6(CNTNAP2):c.551-11T>G rs78223661
NM_014141.6(CNTNAP2):c.551-11_551-10insG rs35167289
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383

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