ClinVar Miner

List of variants in gene ANK2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198 0.00403
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040 0.00340
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=) rs147423696 0.00282
NM_001148.6(ANK2):c.1401A>G (p.Ala467=) rs142159132 0.00269
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=) rs116128106 0.00267
NM_001148.6(ANK2):c.3543C>T (p.Ala1181=) rs76685232 0.00265
NM_001148.6(ANK2):c.3366C>T (p.Asn1122=) rs114896457 0.00256
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=) rs140926982 0.00208
NM_001148.6(ANK2):c.10371G>A (p.Thr3457=) rs142908806 0.00203
NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp) rs66785829 0.00200
NM_001148.6(ANK2):c.11465G>C (p.Gly3822Ala) rs79577190 0.00178
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu) rs145895389 0.00170
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 0.00090
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_001148.6(ANK2):c.10881T>G (p.His3627Gln) rs148405740 0.00029
NM_001148.6(ANK2):c.10531C>T (p.Leu3511=) rs148462839 0.00022
NM_001148.6(ANK2):c.3963T>C (p.Ile1321=) rs72901936 0.00020
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met) rs142534126 0.00019
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=) rs143516811 0.00018
NM_001148.6(ANK2):c.270G>T (p.Val90=) rs376457094 0.00016
NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg) rs371787039 0.00014
NM_001148.6(ANK2):c.2850C>A (p.Gly950=) rs189563238 0.00014
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn) rs199549660 0.00013
NM_001148.6(ANK2):c.4287A>G (p.Ser1429=) rs72556369 0.00011
NM_001148.6(ANK2):c.9690G>A (p.Thr3230=) rs755430079 0.00011
NM_001148.6(ANK2):c.9841C>G (p.Gln3281Glu) rs372534074 0.00011
NM_001148.6(ANK2):c.10805G>A (p.Arg3602Gln) rs374991526 0.00010
NM_001148.6(ANK2):c.11181C>T (p.Gly3727=) rs185569619 0.00009
NM_001148.6(ANK2):c.6505G>A (p.Val2169Ile) rs149292242 0.00007
NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg) rs150808807 0.00006
NM_001148.6(ANK2):c.10032A>G (p.Pro3344=) rs775667097 0.00005
NM_001148.6(ANK2):c.9180A>G (p.Lys3060=) rs753698480 0.00005
NM_001148.6(ANK2):c.11864A>G (p.Asn3955Ser) rs201555985 0.00004
NM_001148.6(ANK2):c.1773T>C (p.Ser591=) rs374775005 0.00004
NM_001148.6(ANK2):c.4653C>T (p.Ile1551=) rs200539502 0.00004
NM_001148.6(ANK2):c.9679A>C (p.Thr3227Pro) rs140604600 0.00004
NM_001148.6(ANK2):c.11594A>G (p.Asp3865Gly) rs140606121 0.00003
NM_001148.6(ANK2):c.10118C>T (p.Ala3373Val) rs371358639 0.00002
NM_001148.6(ANK2):c.11652A>G (p.Glu3884=) rs752145926 0.00002
NM_001148.6(ANK2):c.4777G>T (p.Val1593Phe) rs771802296 0.00002
NM_001148.6(ANK2):c.1033G>A (p.Val345Met) rs1280880991 0.00001
NM_001148.6(ANK2):c.10674T>C (p.His3558=) rs761385520 0.00001
NM_001148.6(ANK2):c.11027G>C (p.Ser3676Thr) rs886059017 0.00001
NM_001148.6(ANK2):c.11556C>T (p.Ala3852=) rs751064768 0.00001
NM_001148.6(ANK2):c.2369C>T (p.Thr790Ile) rs141829855 0.00001
NM_001148.6(ANK2):c.8768A>G (p.Gln2923Arg) rs551454026 0.00001
NM_001127493.3(ANK2):c.-39G>C
NM_001148.6(ANK2):c.10373G>A (p.Ser3458Asn)
NM_001148.6(ANK2):c.10415G>A (p.Arg3472Lys)
NM_001148.6(ANK2):c.1057C>T (p.Gln353Ter)
NM_001148.6(ANK2):c.11188A>G (p.Lys3730Glu) rs2096587836
NM_001148.6(ANK2):c.11390C>T (p.Thr3797Ile)
NM_001148.6(ANK2):c.11687T>C (p.Val3896Ala)
NM_001148.6(ANK2):c.11700T>C (p.Thr3900=)
NM_001148.6(ANK2):c.11859+1319C>T
NM_001148.6(ANK2):c.11859+1463C>T
NM_001148.6(ANK2):c.1495A>T (p.Thr499Ser)
NM_001148.6(ANK2):c.1863C>T (p.Ser621=)
NM_001148.6(ANK2):c.1960G>C (p.Glu654Gln)
NM_001148.6(ANK2):c.2460CAC[4] (p.Thr826del) rs770530257
NM_001148.6(ANK2):c.2736T>C (p.His912=)
NM_001148.6(ANK2):c.2754C>T (p.Asp918=) rs1445606491
NM_001148.6(ANK2):c.2900+5142C>T
NM_001148.6(ANK2):c.2944C>T (p.Arg982Ter) rs1588354762
NM_001148.6(ANK2):c.3900G>T (p.Trp1300Cys) rs2153978939
NM_001148.6(ANK2):c.4811G>A (p.Arg1604Lys) rs776426910
NM_001148.6(ANK2):c.624C>T (p.Ala208=)
NM_001148.6(ANK2):c.6450C>T (p.Tyr2150=)
NM_001148.6(ANK2):c.8027G>C (p.Gly2676Ala)
NM_001148.6(ANK2):c.8351G>A (p.Ser2784Asn)
NM_001148.6(ANK2):c.8486T>C (p.Val2829Ala)
NM_001148.6(ANK2):c.85-28483T>A rs116338686
NM_001148.6(ANK2):c.85-28511G>T
NM_001148.6(ANK2):c.85-28513C>T
NM_001148.6(ANK2):c.85-57022A>C
NM_001148.6(ANK2):c.8586T>A (p.Asp2862Glu)

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