ClinVar Miner

List of variants in gene CNTNAP2 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.3675G>A (p.Ser1225=) rs142331907 0.00417
NM_014141.6(CNTNAP2):c.551-11T>G rs78223661 0.00210
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565 0.00151
NM_014141.6(CNTNAP2):c.136G>A (p.Val46Met) rs137924687 0.00059
NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln) rs758630057 0.00048
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His) rs138738227 0.00048
NM_014141.6(CNTNAP2):c.1858G>A (p.Gly620Arg) rs142980731 0.00041
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521 0.00033
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994 0.00030
NM_014141.6(CNTNAP2):c.1786G>A (p.Glu596Lys) rs141064983 0.00019
NM_014141.6(CNTNAP2):c.2242G>T (p.Asp748Tyr) rs371691712 0.00016
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=) rs117876038 0.00016
NM_014141.6(CNTNAP2):c.1777+7G>A rs770951811 0.00013
NM_014141.6(CNTNAP2):c.143T>C (p.Phe48Ser) rs551931845 0.00009
NM_014141.6(CNTNAP2):c.653C>T (p.Thr218Met) rs771028883 0.00007
NM_014141.6(CNTNAP2):c.2717G>A (p.Arg906His) rs759801195 0.00006
NM_014141.6(CNTNAP2):c.3595G>A (p.Ala1199Thr) rs727503878 0.00006
NM_014141.6(CNTNAP2):c.402+8A>G rs201311931 0.00006
NM_014141.6(CNTNAP2):c.755-6A>T rs376466129 0.00006
NM_014141.6(CNTNAP2):c.340C>T (p.Arg114Trp) rs756180841 0.00003
NM_014141.6(CNTNAP2):c.3427G>A (p.Asp1143Asn) rs765950760 0.00003
NM_014141.6(CNTNAP2):c.3857T>C (p.Met1286Thr) rs150167891 0.00003
NM_014141.6(CNTNAP2):c.485T>G (p.Val162Gly) rs587780320 0.00003
NM_014141.6(CNTNAP2):c.718C>T (p.Leu240=) rs538043826 0.00003
NM_014141.6(CNTNAP2):c.1173C>G (p.Asn391Lys) rs796052370 0.00002
NM_014141.6(CNTNAP2):c.2340A>G (p.Ser780=) rs778124698 0.00002
NM_014141.6(CNTNAP2):c.3235G>A (p.Val1079Ile) rs529269450 0.00002
NM_014141.6(CNTNAP2):c.3791T>C (p.Ile1264Thr) rs376316135 0.00002
NM_014141.6(CNTNAP2):c.634A>G (p.Ile212Val) rs751076079 0.00002
NM_014141.6(CNTNAP2):c.117T>G (p.Leu39=) rs969515416 0.00001
NM_014141.6(CNTNAP2):c.18C>A (p.Arg6=) rs748908765 0.00001
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=) rs535454043
NM_014141.6(CNTNAP2):c.1566G>C (p.Gln522His) rs535454043
NM_014141.6(CNTNAP2):c.1846C>T (p.Pro616Ser) rs587780319
NM_014141.6(CNTNAP2):c.2238C>T (p.Asp746=) rs375648820
NM_014141.6(CNTNAP2):c.2323A>G (p.Thr775Ala) rs1460251447
NM_014141.6(CNTNAP2):c.2744G>A (p.Arg915His) rs369919189
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile) rs146225600
NM_014141.6(CNTNAP2):c.3248-3T>C rs794727326
NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser) rs727503878
NM_014141.6(CNTNAP2):c.3716-5_3716-4insCTGT rs60451214

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