ClinVar Miner

List of variants in gene CNTNAP2 reported by Athena Diagnostics Inc

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127 0.20355
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031 0.18203
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169 0.17471
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128 0.03626
NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=) rs79039458 0.00749
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292 0.00609
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867 0.00548
NM_014141.6(CNTNAP2):c.1137C>T (p.Asn379=) rs78543192 0.00454
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.3585G>A (p.Arg1195=) rs77789547 0.00300
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670 0.00264
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00096
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His) rs138738227 0.00048
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521 0.00033
NM_014141.6(CNTNAP2):c.400T>G (p.Trp134Gly) rs139694086 0.00021
NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr) rs121908445 0.00018
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_014141.6(CNTNAP2):c.3112G>A (p.Asp1038Asn) rs144003410 0.00006
NM_014141.6(CNTNAP2):c.3179C>T (p.Ala1060Val) rs369254596 0.00006
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_014141.6(CNTNAP2):c.3833C>T (p.Thr1278Ile) rs760047247 0.00003
NM_014141.6(CNTNAP2):c.2440A>G (p.Thr814Ala) rs1060503571
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile) rs146225600
NM_014141.6(CNTNAP2):c.3555C>G (p.Asn1185Lys) rs369699763
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014141.6(CNTNAP2):c.638C>T (p.Ala213Val) rs1563079216

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