ClinVar Miner

List of variants in gene CNTNAP2 reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849 0.01075
NM_014141.6(CNTNAP2):c.834T>C (p.Ser278=) rs61732854 0.00910
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.1137C>T (p.Asn379=) rs78543192 0.00454
NM_014141.6(CNTNAP2):c.3675G>A (p.Ser1225=) rs142331907 0.00417
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.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.2123T>C (p.Val708Ala) rs148453565 0.00151
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
NM_014141.6(CNTNAP2):c.2292C>T (p.His764=) rs143286960 0.00063
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702 0.00041
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475 0.00035
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521 0.00033
NM_014141.6(CNTNAP2):c.633C>A (p.Val211=) rs140505542 0.00032
NM_014141.6(CNTNAP2):c.1032C>T (p.Gly344=) rs142122012 0.00030
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994 0.00030
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.1455T>C (p.Asn485=) rs370095062 0.00019
NM_014141.6(CNTNAP2):c.561T>C (p.Val187=) rs201200400 0.00019
NM_014141.6(CNTNAP2):c.837G>A (p.Val279=) rs143507886 0.00019
NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr) rs121908445 0.00018
NM_014141.6(CNTNAP2):c.3903G>A (p.Ala1301=) rs146206159 0.00016
NM_014141.6(CNTNAP2):c.3155G>A (p.Arg1052His) rs374739970 0.00009
NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=) rs368108883 0.00006
NM_014141.6(CNTNAP2):c.3112G>A (p.Asp1038Asn) rs144003410 0.00006
NM_014141.6(CNTNAP2):c.3576C>T (p.Ala1192=) rs764089965 0.00006
NM_014141.6(CNTNAP2):c.3180G>A (p.Ala1060=) rs372645983 0.00005
NM_014141.6(CNTNAP2):c.1062G>A (p.Lys354=) rs1034170979 0.00004
NM_014141.6(CNTNAP2):c.1161C>T (p.Pro387=) rs755129419 0.00004
NM_014141.6(CNTNAP2):c.1635G>A (p.Ala545=) rs755959345 0.00004
NM_014141.6(CNTNAP2):c.894C>T (p.His298=) rs200961501 0.00004
NM_014141.6(CNTNAP2):c.1078A>G (p.Asn360Asp) rs570190374 0.00003
NM_014141.6(CNTNAP2):c.1377C>T (p.His459=) rs377678020 0.00003
NM_014141.6(CNTNAP2):c.1581C>T (p.Asp527=) rs774328147 0.00003
NM_014141.6(CNTNAP2):c.2460C>T (p.Ser820=) rs144496909 0.00003
NM_014141.6(CNTNAP2):c.1479C>T (p.Gly493=) rs779384498 0.00002
NM_014141.6(CNTNAP2):c.2340A>G (p.Ser780=) rs778124698 0.00002
NM_014141.6(CNTNAP2):c.2391T>C (p.Tyr797=) rs562833882 0.00002
NM_014141.6(CNTNAP2):c.3990C>T (p.Leu1330=) rs1057522590 0.00002
NM_014141.6(CNTNAP2):c.855G>A (p.Gly285=) rs372386633 0.00002
NM_014141.6(CNTNAP2):c.1320C>A (p.Thr440=) rs994508015 0.00001
NM_014141.6(CNTNAP2):c.2364T>A (p.Pro788=) rs1801459664 0.00001
NM_014141.6(CNTNAP2):c.2541G>A (p.Lys847=) rs746676806 0.00001
NM_014141.6(CNTNAP2):c.3198C>T (p.Tyr1066=) rs772842467 0.00001
NM_014141.6(CNTNAP2):c.3834C>T (p.Thr1278=) rs147111339 0.00001
NM_014141.6(CNTNAP2):c.1182G>C (p.Leu394=) rs773478974
NM_014141.6(CNTNAP2):c.1191C>T (p.Val397=) rs1490434881
NM_014141.6(CNTNAP2):c.1353T>C (p.Ser451=) rs1794916255
NM_014141.6(CNTNAP2):c.1411A>G (p.Ile471Val) rs1286176571
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=) rs535454043
NM_014141.6(CNTNAP2):c.1692G>A (p.Glu564=) rs1798502244
NM_014141.6(CNTNAP2):c.2136C>T (p.Asn712=) rs187552025
NM_014141.6(CNTNAP2):c.2610A>G (p.Val870=) rs1563214691
NM_014141.6(CNTNAP2):c.2736C>T (p.Gly912=)
NM_014141.6(CNTNAP2):c.3018T>C (p.Gly1006=) rs1562998457
NM_014141.6(CNTNAP2):c.3333G>A (p.Gln1111=)
NM_014141.6(CNTNAP2):c.3627G>A (p.Leu1209=) rs1563066734
NM_014141.6(CNTNAP2):c.3678C>G (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3716-5_3716-4insGT rs60451214
NM_014141.6(CNTNAP2):c.3921G>A (p.Ala1307=) rs750224036
NM_014141.6(CNTNAP2):c.3921G>T (p.Ala1307=) rs750224036
NM_014141.6(CNTNAP2):c.600C>T (p.Phe200=) rs752019151
NM_014141.6(CNTNAP2):c.606C>T (p.Asn202=)

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