ClinVar Miner

List of variants in gene ANK3 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_020987.5(ANK3):c.2615-6882A>G rs41283526 0.00832
NM_020987.5(ANK3):c.6483C>T (p.Val2161=) rs3134609 0.00772
NM_020987.5(ANK3):c.1047C>T (p.Cys349=) rs117138204 0.00580
NM_020987.5(ANK3):c.13106G>A (p.Arg4369Gln) rs141939315 0.00503
NM_020987.5(ANK3):c.6621C>T (p.Pro2207=) rs61732396 0.00473
NM_020987.5(ANK3):c.7225T>C (p.Ser2409Pro) rs148904927 0.00459
NM_020987.5(ANK3):c.8508T>C (p.His2836=) rs11815168 0.00416
NM_020987.5(ANK3):c.2322G>C (p.Gly774=) rs138823660 0.00344
NM_020987.5(ANK3):c.10055A>G (p.Glu3352Gly) rs61845768 0.00329
NM_020987.5(ANK3):c.2889C>T (p.Tyr963=) rs149682716 0.00309
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met) rs117475706 0.00292
NM_020987.5(ANK3):c.2103C>T (p.Leu701=) rs142415903 0.00280
NM_020987.5(ANK3):c.756G>A (p.Thr252=) rs117266082 0.00280
NM_020987.5(ANK3):c.2674T>C (p.Leu892=) rs61732401 0.00273
NM_020987.5(ANK3):c.2316G>A (p.Gln772=) rs143430852 0.00240
NM_020987.5(ANK3):c.9997A>T (p.Thr3333Ser) rs140183285 0.00178
NM_020987.5(ANK3):c.10688A>G (p.Glu3563Gly) rs147527383 0.00177
NM_020987.5(ANK3):c.4465C>T (p.Pro1489Ser) rs41274676 0.00152
NM_020987.5(ANK3):c.1492-12C>A rs41283530 0.00138
NM_020987.5(ANK3):c.8534G>A (p.Gly2845Glu) rs139022925 0.00126
NM_020987.5(ANK3):c.11825A>G (p.Lys3942Arg) rs148549519 0.00116
NM_020987.5(ANK3):c.4029G>A (p.Glu1343=) rs116757606 0.00114
NM_020987.5(ANK3):c.3897G>A (p.Thr1299=) rs150367434 0.00106
NM_020987.5(ANK3):c.9935C>T (p.Ala3312Val) rs201625904 0.00101
NM_020987.5(ANK3):c.3822C>G (p.Ser1274=) rs184515022 0.00095
NM_020987.5(ANK3):c.399C>T (p.Val133=) rs77316697 0.00076
NM_020987.5(ANK3):c.4826C>T (p.Thr1609Met) rs148024054 0.00058
NM_020987.5(ANK3):c.6597T>G (p.Thr2199=) rs146801915 0.00056
NM_020987.5(ANK3):c.11366A>G (p.Asn3789Ser) rs144123544 0.00043
NM_020987.5(ANK3):c.6555G>T (p.Gln2185His) rs144465058 0.00036
NM_020987.5(ANK3):c.2173G>A (p.Ala725Thr) rs144051466 0.00030
NM_020987.5(ANK3):c.11090C>G (p.Ser3697Cys) rs148109897 0.00024
NM_020987.5(ANK3):c.4403G>A (p.Arg1468His) rs74777754 0.00024
NM_020987.5(ANK3):c.5981C>T (p.Ser1994Leu) rs141251507 0.00024
NM_020987.5(ANK3):c.8573C>T (p.Ser2858Leu) rs78194762 0.00023
NM_020987.5(ANK3):c.2001C>T (p.Ser667=) rs146438080 0.00022
NM_020987.5(ANK3):c.4085G>C (p.Gly1362Ala) rs200556767 0.00019
NM_020987.5(ANK3):c.8512A>G (p.Thr2838Ala) rs200218631 0.00019
NM_020987.5(ANK3):c.3969C>T (p.Pro1323=) rs140104995 0.00017
NM_020987.5(ANK3):c.11159C>T (p.Thr3720Met) rs201547988 0.00014
NM_020987.5(ANK3):c.2385T>C (p.Asn795=) rs372094828 0.00014
NM_020987.5(ANK3):c.6945T>G (p.His2315Gln) rs375411220 0.00010
NM_020987.5(ANK3):c.4868G>A (p.Arg1623Gln) rs143606308 0.00009
NM_020987.5(ANK3):c.9705C>T (p.Asp3235=) rs12769318 0.00008
NM_020987.5(ANK3):c.10020C>T (p.Asp3340=) rs750349884 0.00007
NM_020987.5(ANK3):c.10397T>A (p.Val3466Asp) rs201398340 0.00007
NM_020987.5(ANK3):c.11484A>G (p.Ser3828=) rs771625001 0.00007
NM_020987.5(ANK3):c.2976G>A (p.Ala992=) rs747475542 0.00006
NM_020987.5(ANK3):c.671A>G (p.Asn224Ser) rs200837964 0.00006
NM_020987.5(ANK3):c.3279T>A (p.Phe1093Leu) rs562083248 0.00005
NM_020987.5(ANK3):c.12108G>A (p.Thr4036=) rs763160108 0.00004
NM_020987.5(ANK3):c.6661A>G (p.Met2221Val) rs765007870 0.00004
NM_020987.5(ANK3):c.7487A>C (p.Gln2496Pro) rs368439840 0.00004
NM_020987.5(ANK3):c.8589T>G (p.Asn2863Lys) rs149138713 0.00004
NM_020987.5(ANK3):c.8883C>T (p.Pro2961=) rs765123203 0.00002
NM_020987.5(ANK3):c.10749G>A (p.Thr3583=) rs985040592 0.00001
NM_020987.5(ANK3):c.10990G>A (p.Asp3664Asn) rs781254027 0.00001
NM_020987.5(ANK3):c.12368G>A (p.Arg4123His) rs780088040 0.00001
NM_020987.5(ANK3):c.12596-435G>A rs778947009 0.00001
NM_020987.5(ANK3):c.4530G>A (p.Pro1510=) rs757803121 0.00001
NM_020987.5(ANK3):c.7987G>A (p.Glu2663Lys) rs369092362 0.00001
NM_020987.5(ANK3):c.8048A>C (p.Glu2683Ala) rs775797548 0.00001
NM_020987.5(ANK3):c.8684A>G (p.Asn2895Ser) rs747994876 0.00001
NM_020987.5(ANK3):c.8733C>G (p.Gly2911=) rs750979279 0.00001
NM_020987.5(ANK3):c.9962A>G (p.Glu3321Gly) rs140902380 0.00001
NM_020987.5(ANK3):c.10019A>T (p.Asp3340Val) rs1337459791
NM_020987.5(ANK3):c.10164C>T (p.Asn3388=) rs148635129
NM_020987.5(ANK3):c.11007C>A (p.Thr3669=) rs2131966858
NM_020987.5(ANK3):c.11111A>C (p.Lys3704Thr)
NM_020987.5(ANK3):c.11476G>C (p.Val3826Leu)
NM_020987.5(ANK3):c.11826G>A (p.Lys3942=)
NM_020987.5(ANK3):c.11898CAC[6] (p.Thr3978dup) rs548780827
NM_020987.5(ANK3):c.11950G>A (p.Val3984Ile)
NM_020987.5(ANK3):c.11977T>C (p.Cys3993Arg)
NM_020987.5(ANK3):c.12117C>T (p.Ser4039=)
NM_020987.5(ANK3):c.12227G>A (p.Arg4076Lys)
NM_020987.5(ANK3):c.12294C>T (p.Ala4098=)
NM_020987.5(ANK3):c.12596-306T>A
NM_020987.5(ANK3):c.12596-355G>T
NM_020987.5(ANK3):c.12672T>A (p.Asp4224Glu)
NM_020987.5(ANK3):c.12788_12789del (p.Thr4263fs) rs2079078019
NM_020987.5(ANK3):c.1290C>G (p.Thr430=) rs374761322
NM_020987.5(ANK3):c.13082A>T (p.Lys4361Met) rs2076325400
NM_020987.5(ANK3):c.1340A>T (p.Asn447Ile) rs1565651946
NM_020987.5(ANK3):c.1419A>G (p.Ala473=)
NM_020987.5(ANK3):c.1681A>G (p.Thr561Ala)
NM_020987.5(ANK3):c.2086-7T>G
NM_020987.5(ANK3):c.2164C>T (p.His722Tyr) rs267602541
NM_020987.5(ANK3):c.2166T>C (p.His722=)
NM_020987.5(ANK3):c.2295G>A (p.Thr765=)
NM_020987.5(ANK3):c.2614+6del rs370950407
NM_020987.5(ANK3):c.273T>C (p.Ser91=)
NM_020987.5(ANK3):c.2743C>T (p.Arg915Cys)
NM_020987.5(ANK3):c.2837A>C (p.Glu946Ala) rs1347320438
NM_020987.5(ANK3):c.287G>A (p.Arg96Lys) rs1592956332
NM_020987.5(ANK3):c.3105C>G (p.Pro1035=) rs55680239
NM_020987.5(ANK3):c.3218A>G (p.Lys1073Arg) rs2092116910
NM_020987.5(ANK3):c.3962A>G (p.Asn1321Ser)
NM_020987.5(ANK3):c.4336G>C (p.Asp1446His) rs1589722025
NM_020987.5(ANK3):c.4365_4368del (p.Arg1456fs) rs2084966849
NM_020987.5(ANK3):c.4608G>A (p.Pro1536=)
NM_020987.5(ANK3):c.4632G>A (p.Ser1544=)
NM_020987.5(ANK3):c.4662C>T (p.Gly1554=)
NM_020987.5(ANK3):c.5199T>C (p.Asn1733=)
NM_020987.5(ANK3):c.5331A>C (p.Pro1777=)
NM_020987.5(ANK3):c.5443G>A (p.Val1815Ile) rs1589630328
NM_020987.5(ANK3):c.5733C>T (p.Asp1911=)
NM_020987.5(ANK3):c.6684T>C (p.Asp2228=) rs2131980584
NM_020987.5(ANK3):c.6735C>T (p.His2245=)
NM_020987.5(ANK3):c.7000A>G (p.Ile2334Val)
NM_020987.5(ANK3):c.7449G>A (p.Ser2483=)
NM_020987.5(ANK3):c.7909A>T (p.Thr2637Ser)
NM_020987.5(ANK3):c.8458G>C (p.Ala2820Pro) rs1452344286
NM_020987.5(ANK3):c.8679A>G (p.Gln2893=)
NM_020987.5(ANK3):c.8773T>G (p.Ser2925Ala)
NM_020987.5(ANK3):c.9145C>T (p.Pro3049Ser)
NM_020987.5(ANK3):c.9328CAA[1] (p.Gln3111del)
NM_020987.5(ANK3):c.98G>A (p.Arg33Gln)

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