ClinVar Miner

List of variants in gene ANKS6 studied for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 261
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HGVS dbSNP gnomAD frequency
NM_173551.5(ANKS6):c.1617+86C>T rs4742741 0.71449
NM_173551.5(ANKS6):c.360-67A>G rs7027771 0.56802
NM_173551.5(ANKS6):c.165C>T (p.Ala55=) rs138948716 0.27756
NM_173551.5(ANKS6):c.330C>T (p.Tyr110=) rs76903503 0.10234
NM_173551.5(ANKS6):c.585G>A (p.Leu195=) rs75634918 0.00976
NM_173551.5(ANKS6):c.1767G>A (p.Ala589=) rs115807585 0.00974
NM_173551.5(ANKS6):c.862+20G>A rs115965425 0.00695
NM_173551.5(ANKS6):c.664C>T (p.Arg222Trp) rs41283630 0.00475
NM_173551.5(ANKS6):c.658G>A (p.Ala220Thr) rs200419394 0.00287
NM_173551.5(ANKS6):c.603C>T (p.His201=) rs137870160 0.00264
NM_173551.5(ANKS6):c.1565A>G (p.Asn522Ser) rs148071928 0.00229
NM_173551.5(ANKS6):c.193G>T (p.Val65Phe) rs745881769 0.00207
NM_173551.5(ANKS6):c.1740C>T (p.Asn580=) rs141868637 0.00199
NM_173551.5(ANKS6):c.1525C>A (p.Arg509Ser) rs150567578 0.00164
NM_173551.5(ANKS6):c.615C>T (p.Ala205=) rs145249233 0.00139
NM_173551.5(ANKS6):c.281T>C (p.Val94Ala) rs538147505 0.00131
NM_173551.5(ANKS6):c.1008G>A (p.Thr336=) rs373872443 0.00113
NM_173551.5(ANKS6):c.1533A>C (p.Ala511=) rs200743968 0.00109
NM_173551.5(ANKS6):c.532G>A (p.Glu178Lys) rs181546859 0.00103
NM_173551.5(ANKS6):c.772G>C (p.Glu258Gln) rs200201069 0.00096
NM_173551.5(ANKS6):c.1112+18G>A rs146595455 0.00083
NM_173551.5(ANKS6):c.2564T>C (p.Phe855Ser) rs200644058 0.00081
NM_173551.5(ANKS6):c.1782C>T (p.Ala594=) rs78732864 0.00077
NM_173551.5(ANKS6):c.2409G>A (p.Ala803=) rs373756771 0.00065
NM_173551.5(ANKS6):c.565C>G (p.Pro189Ala) rs199653685 0.00063
NM_173551.5(ANKS6):c.937G>A (p.Asp313Asn) rs79073889 0.00060
NM_173551.5(ANKS6):c.1772C>G (p.Pro591Arg) rs116621934 0.00058
NM_173551.5(ANKS6):c.2310C>T (p.Gly770=) rs181456709 0.00056
NM_173551.5(ANKS6):c.975C>T (p.Asp325=) rs76803608 0.00055
NM_173551.5(ANKS6):c.1617+12G>A rs199751679 0.00053
NM_173551.5(ANKS6):c.1468G>A (p.Glu490Lys) rs201174056 0.00051
NM_173551.5(ANKS6):c.1458T>C (p.Pro486=) rs201904871 0.00048
NM_173551.5(ANKS6):c.2267C>T (p.Ser756Leu) rs199722684 0.00048
NM_173551.5(ANKS6):c.2343C>T (p.Ile781=) rs146161090 0.00045
NM_173551.5(ANKS6):c.537A>G (p.Gln179=) rs200417280 0.00044
NM_173551.5(ANKS6):c.2593C>T (p.Pro865Ser) rs199851177 0.00043
NM_173551.5(ANKS6):c.609C>T (p.His203=) rs372936113 0.00042
NM_173551.5(ANKS6):c.583C>T (p.Leu195=) rs200911908 0.00040
NM_173551.5(ANKS6):c.2113C>T (p.Pro705Ser) rs146038901 0.00037
NM_173551.5(ANKS6):c.1219+18A>T rs372791631 0.00036
NM_173551.5(ANKS6):c.2143-15T>C rs376048873 0.00035
NM_173551.5(ANKS6):c.498C>T (p.Ala166=) rs374209515 0.00031
NM_173551.5(ANKS6):c.806A>G (p.Lys269Arg) rs200902480 0.00028
NM_173551.5(ANKS6):c.1381C>T (p.Arg461Ter) rs369437168 0.00024
NM_173551.5(ANKS6):c.1731G>A (p.Thr577=) rs201821907 0.00021
NM_173551.5(ANKS6):c.643G>A (p.Ala215Thr) rs199530402 0.00021
NM_173551.5(ANKS6):c.908-16C>T rs375604399 0.00021
NM_173551.5(ANKS6):c.2271C>T (p.Ser757=) rs200246959 0.00019
NM_173551.5(ANKS6):c.538C>T (p.Leu180=) rs201725414 0.00017
NM_173551.5(ANKS6):c.1310C>T (p.Ser437Leu) rs60911313 0.00015
NM_173551.5(ANKS6):c.209C>G (p.Pro70Arg) rs1300854819 0.00015
NM_173551.5(ANKS6):c.2142+14G>T rs545751955 0.00014
NM_173551.5(ANKS6):c.1099G>T (p.Ala367Ser) rs201416355 0.00011
NM_173551.5(ANKS6):c.1528T>C (p.Ser510Pro) rs201126816 0.00011
NM_173551.5(ANKS6):c.190G>C (p.Ala64Pro) rs1022019420 0.00011
NM_173551.5(ANKS6):c.2233G>A (p.Gly745Arg) rs202244716 0.00011
NM_173551.5(ANKS6):c.1134T>C (p.Tyr378=) rs200656157 0.00010
NM_173551.5(ANKS6):c.1641C>A (p.Thr547=) rs371491495 0.00009
NM_173551.5(ANKS6):c.1680A>G (p.Pro560=) rs181786617 0.00009
NM_173551.5(ANKS6):c.354G>A (p.Ala118=) rs980440912 0.00009
NM_173551.5(ANKS6):c.1185G>A (p.Thr395=) rs146980948 0.00008
NM_173551.5(ANKS6):c.1391A>G (p.Asn464Ser) rs201104087 0.00008
NM_173551.5(ANKS6):c.968A>G (p.Asn323Ser) rs368427707 0.00008
NM_173551.5(ANKS6):c.19C>T (p.Pro7Ser) rs961602813 0.00007
NM_173551.5(ANKS6):c.1007C>T (p.Thr336Met) rs376870807 0.00006
NM_173551.5(ANKS6):c.1056T>C (p.Val352=) rs770486379 0.00006
NM_173551.5(ANKS6):c.1112+17C>T rs373774638 0.00006
NM_173551.5(ANKS6):c.1115A>G (p.Asn372Ser) rs201297615 0.00006
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00006
NM_173551.5(ANKS6):c.1803C>T (p.Gly601=) rs747006701 0.00006
NM_173551.5(ANKS6):c.2094G>A (p.Pro698=) rs368311212 0.00006
NM_173551.5(ANKS6):c.2264C>T (p.Ser755Leu) rs370230003 0.00005
NM_173551.5(ANKS6):c.847G>A (p.Val283Ile) rs748439897 0.00005
NM_173551.5(ANKS6):c.1077T>C (p.His359=) rs369418562 0.00004
NM_173551.5(ANKS6):c.1142A>G (p.Asn381Ser) rs368211870 0.00004
NM_173551.5(ANKS6):c.1428C>A (p.Pro476=) rs760767896 0.00004
NM_173551.5(ANKS6):c.457C>T (p.Arg153Trp) rs746996270 0.00004
NM_173551.5(ANKS6):c.657C>T (p.His219=) rs374878706 0.00004
NM_173551.5(ANKS6):c.1125T>C (p.Ile375=) rs200355078 0.00003
NM_173551.5(ANKS6):c.1421C>T (p.Thr474Met) rs765655284 0.00003
NM_173551.5(ANKS6):c.1430G>A (p.Arg477His) rs368551263 0.00003
NM_173551.5(ANKS6):c.1973-3C>G rs397514257 0.00003
NM_173551.5(ANKS6):c.1989T>C (p.Asn663=) rs756110261 0.00003
NM_173551.5(ANKS6):c.2197A>C (p.Thr733Pro) rs201419783 0.00003
NM_173551.5(ANKS6):c.2395-7T>C rs775510768 0.00003
NM_173551.5(ANKS6):c.424C>T (p.Arg142Trp) rs199671276 0.00003
NM_173551.5(ANKS6):c.7G>C (p.Glu3Gln) rs974222769 0.00003
NM_173551.5(ANKS6):c.155C>T (p.Ala52Val) rs1422061469 0.00002
NM_173551.5(ANKS6):c.1618-16A>G rs772363640 0.00002
NM_173551.5(ANKS6):c.2105C>T (p.Pro702Leu) rs760387934 0.00002
NM_173551.5(ANKS6):c.95G>C (p.Gly32Ala) rs1337342690 0.00002
NM_173551.5(ANKS6):c.984G>A (p.Thr328=) rs757731263 0.00002
NM_173551.5(ANKS6):c.1200G>A (p.Val400=) rs989677830 0.00001
NM_173551.5(ANKS6):c.1429C>A (p.Arg477Ser) rs770883667 0.00001
NM_173551.5(ANKS6):c.1973-1G>A rs1458080834 0.00001
NM_173551.5(ANKS6):c.2327A>G (p.Asp776Gly) rs372265310 0.00001
NM_173551.5(ANKS6):c.2487G>A (p.Ala829=) rs758679399 0.00001
NM_173551.5(ANKS6):c.2503G>A (p.Ala835Thr) rs765164797 0.00001
NM_173551.5(ANKS6):c.2612C>T (p.Ala871Val) rs1047225292 0.00001
NM_173551.5(ANKS6):c.2613G>A (p.Ala871=) rs376268978 0.00001
NM_173551.5(ANKS6):c.2615G>A (p.Ter872=) rs753848505 0.00001
NM_173551.5(ANKS6):c.407A>C (p.Asp136Ala) rs1057523009 0.00001
NM_173551.5(ANKS6):c.413A>G (p.Asn138Ser) rs374511363 0.00001
NM_173551.5(ANKS6):c.549C>T (p.Gly183=) rs769349601 0.00001
NM_173551.5(ANKS6):c.690G>A (p.Met230Ile) rs201704559 0.00001
NM_173551.5(ANKS6):c.850A>G (p.Arg284Gly) rs781241633 0.00001
NM_173551.5(ANKS6):c.904A>G (p.Met302Val) rs780949680 0.00001
NM_173551.5(ANKS6):c.1011G>T (p.Gly337=) rs1834425438
NM_173551.5(ANKS6):c.1030C>T (p.Leu344=) rs1834424072
NM_173551.5(ANKS6):c.1048G>A (p.Ala350Thr)
NM_173551.5(ANKS6):c.1071C>T (p.Ser357=)
NM_173551.5(ANKS6):c.1096C>T (p.Gln366Ter)
NM_173551.5(ANKS6):c.1112+11G>A
NM_173551.5(ANKS6):c.1112+16A>G
NM_173551.5(ANKS6):c.1117A>G (p.Lys373Glu) rs2118118181
NM_173551.5(ANKS6):c.1152C>T (p.Ala384=)
NM_173551.5(ANKS6):c.1176T>G (p.Asn392Lys) rs776931798
NM_173551.5(ANKS6):c.1219+18_1219+19del
NM_173551.5(ANKS6):c.1219G>A (p.Asp407Asn)
NM_173551.5(ANKS6):c.1220-15C>G
NM_173551.5(ANKS6):c.1220-6C>T rs1371737147
NM_173551.5(ANKS6):c.1235G>A (p.Arg412Gln)
NM_173551.5(ANKS6):c.1266T>C (p.Asn422=) rs1588399891
NM_173551.5(ANKS6):c.1300del (p.Leu434fs)
NM_173551.5(ANKS6):c.1301T>C (p.Leu434Pro)
NM_173551.5(ANKS6):c.130_157del (p.Glu44fs) rs1564236717
NM_173551.5(ANKS6):c.131A>C (p.Glu44Ala) rs1835177191
NM_173551.5(ANKS6):c.1331G>A (p.Ser444Asn)
NM_173551.5(ANKS6):c.1347C>T (p.Pro449=)
NM_173551.5(ANKS6):c.1348G>A (p.Asp450Asn)
NM_173551.5(ANKS6):c.1361G>A (p.Gly454Glu)
NM_173551.5(ANKS6):c.1369-13G>A rs530245376
NM_173551.5(ANKS6):c.1373G>A (p.Trp458Ter)
NM_173551.5(ANKS6):c.1385T>G (p.Met462Arg) rs2118085004
NM_173551.5(ANKS6):c.1400G>A (p.Arg467Gln)
NM_173551.5(ANKS6):c.1407C>G (p.Leu469=)
NM_173551.5(ANKS6):c.1425G>T (p.Leu475=)
NM_173551.5(ANKS6):c.1429C>T (p.Arg477Cys)
NM_173551.5(ANKS6):c.1467C>T (p.Asp489=)
NM_173551.5(ANKS6):c.147G>A (p.Pro49=)
NM_173551.5(ANKS6):c.1507C>G (p.Pro503Ala) rs200049920
NM_173551.5(ANKS6):c.1508C>G (p.Pro503Arg)
NM_173551.5(ANKS6):c.1536C>T (p.Leu512=)
NM_173551.5(ANKS6):c.1545G>A (p.Ala515=)
NM_173551.5(ANKS6):c.1568-15C>T
NM_173551.5(ANKS6):c.1611A>C (p.Thr537=) rs779026149
NM_173551.5(ANKS6):c.1618-13C>T
NM_173551.5(ANKS6):c.1626C>T (p.Asn542=)
NM_173551.5(ANKS6):c.1632T>A (p.Ala544=) rs2118054951
NM_173551.5(ANKS6):c.1672_1675dup (p.Pro559fs) rs2118054723
NM_173551.5(ANKS6):c.1683_1698dup (p.Phe567fs)
NM_173551.5(ANKS6):c.1690C>A (p.Pro564Thr) rs190075616
NM_173551.5(ANKS6):c.1690C>G (p.Pro564Ala)
NM_173551.5(ANKS6):c.1701T>C (p.Phe567=)
NM_173551.5(ANKS6):c.1721G>A (p.Arg574Gln) rs112147399
NM_173551.5(ANKS6):c.1733G>A (p.Arg578His)
NM_173551.5(ANKS6):c.1746G>A (p.Lys582=)
NM_173551.5(ANKS6):c.1766C>A (p.Ala589Glu)
NM_173551.5(ANKS6):c.1820C>T (p.Thr607Ile)
NM_173551.5(ANKS6):c.189_190del (p.Ala64fs)
NM_173551.5(ANKS6):c.1973-6C>T
NM_173551.5(ANKS6):c.1980C>T (p.Ser660=)
NM_173551.5(ANKS6):c.2041C>G (p.Gln681Glu)
NM_173551.5(ANKS6):c.2052C>A (p.Ser684Arg) rs1554742278
NM_173551.5(ANKS6):c.2054_2064del (p.His685fs) rs587777024
NM_173551.5(ANKS6):c.2057G>A (p.Arg686Gln)
NM_173551.5(ANKS6):c.2077_2078delinsTT (p.Ala693Leu) rs2118011839
NM_173551.5(ANKS6):c.2080C>T (p.Pro694Ser)
NM_173551.5(ANKS6):c.2092C>G (p.Pro698Ala)
NM_173551.5(ANKS6):c.2127C>T (p.Ser709=)
NM_173551.5(ANKS6):c.2142+10T>C
NM_173551.5(ANKS6):c.2142+11T>C
NM_173551.5(ANKS6):c.2142+20T>G
NM_173551.5(ANKS6):c.2142G>T (p.Lys714Asn)
NM_173551.5(ANKS6):c.2143-10T>C
NM_173551.5(ANKS6):c.2157C>A (p.Ser719Arg)
NM_173551.5(ANKS6):c.2177C>T (p.Thr726Ile)
NM_173551.5(ANKS6):c.21C>G (p.Pro7=) rs1315525980
NM_173551.5(ANKS6):c.2203C>G (p.Pro735Ala) rs79414550
NM_173551.5(ANKS6):c.2214G>A (p.Thr738=)
NM_173551.5(ANKS6):c.2220C>T (p.Ser740=)
NM_173551.5(ANKS6):c.2225C>T (p.Ser742Leu)
NM_173551.5(ANKS6):c.2265G>A (p.Ser755=) rs566372073
NM_173551.5(ANKS6):c.2265G>C (p.Ser755=) rs566372073
NM_173551.5(ANKS6):c.2270C>G (p.Ser757Cys)
NM_173551.5(ANKS6):c.2273A>T (p.His758Leu)
NM_173551.5(ANKS6):c.2287A>G (p.Ser763Gly) rs1440045028
NM_173551.5(ANKS6):c.2289C>T (p.Ser763=)
NM_173551.5(ANKS6):c.228G>A (p.Glu76=)
NM_173551.5(ANKS6):c.2321A>G (p.Asp774Gly)
NM_173551.5(ANKS6):c.2324A>T (p.Glu775Val)
NM_173551.5(ANKS6):c.2325G>A (p.Glu775=)
NM_173551.5(ANKS6):c.2327-19del rs575021016
NM_173551.5(ANKS6):c.2327-19dup rs575021016
NM_173551.5(ANKS6):c.2327-4G>A
NM_173551.5(ANKS6):c.2331A>C (p.Glu777Asp)
NM_173551.5(ANKS6):c.2370_2372del (p.Tyr790_Gln791delinsTer) rs587777025
NM_173551.5(ANKS6):c.238A>G (p.Thr80Ala) rs1554752436
NM_173551.5(ANKS6):c.2390A>G (p.Gln797Arg)
NM_173551.5(ANKS6):c.2394+15T>C
NM_173551.5(ANKS6):c.2394+1G>A
NM_173551.5(ANKS6):c.2394+8T>C
NM_173551.5(ANKS6):c.2395-12C>A
NM_173551.5(ANKS6):c.2395-14C>T
NM_173551.5(ANKS6):c.2420dup (p.Thr808fs) rs2131933650
NM_173551.5(ANKS6):c.2440del (p.Glu814fs)
NM_173551.5(ANKS6):c.2498T>G (p.Leu833Arg) rs2131933560
NM_173551.5(ANKS6):c.24G>T (p.Pro8=)
NM_173551.5(ANKS6):c.2502C>T (p.Asn834=) rs201958764
NM_173551.5(ANKS6):c.2511+3A>G rs2131933540
NM_173551.5(ANKS6):c.2512-2A>C rs397514258
NM_173551.5(ANKS6):c.2534A>C (p.Gln845Pro)
NM_173551.5(ANKS6):c.2578A>G (p.Ser860Gly)
NM_173551.5(ANKS6):c.279G>A (p.Leu93=)
NM_173551.5(ANKS6):c.282G>A (p.Val94=) rs1480325652
NM_173551.5(ANKS6):c.288C>T (p.Phe96=)
NM_173551.5(ANKS6):c.359+10C>A
NM_173551.5(ANKS6):c.359+7C>T
NM_173551.5(ANKS6):c.35TGC[4] (p.Leu14_Arg15insLeu)
NM_173551.5(ANKS6):c.360-11C>T
NM_173551.5(ANKS6):c.360-126C>A rs7038640
NM_173551.5(ANKS6):c.362T>G (p.Phe121Cys) rs1478685052
NM_173551.5(ANKS6):c.382C>A (p.His128Asn)
NM_173551.5(ANKS6):c.399C>T (p.His133=)
NM_173551.5(ANKS6):c.411C>G (p.Val137=)
NM_173551.5(ANKS6):c.45C>T (p.Arg15=)
NM_173551.5(ANKS6):c.516T>C (p.His172=)
NM_173551.5(ANKS6):c.539_540del (p.Leu180fs) rs1588420907
NM_173551.5(ANKS6):c.568T>G (p.Leu190Val)
NM_173551.5(ANKS6):c.607C>T (p.His203Tyr)
NM_173551.5(ANKS6):c.636G>T (p.Glu212Asp)
NM_173551.5(ANKS6):c.639G>A (p.Trp213Ter)
NM_173551.5(ANKS6):c.664C>G (p.Arg222Gly) rs41283630
NM_173551.5(ANKS6):c.665G>A (p.Arg222Gln)
NM_173551.5(ANKS6):c.669C>T (p.Thr223=)
NM_173551.5(ANKS6):c.684G>A (p.Pro228=)
NM_173551.5(ANKS6):c.694_718dup (p.Val240fs) rs1564228101
NM_173551.5(ANKS6):c.696C>T (p.Ala232=)
NM_173551.5(ANKS6):c.6C>T (p.Gly2=)
NM_173551.5(ANKS6):c.71C>T (p.Thr24Met)
NM_173551.5(ANKS6):c.723C>T (p.Ala241=)
NM_173551.5(ANKS6):c.727C>T (p.Gln243Ter) rs756090222
NM_173551.5(ANKS6):c.733G>T (p.Val245Leu)
NM_173551.5(ANKS6):c.741G>A (p.Lys247=)
NM_173551.5(ANKS6):c.743G>T (p.Gly248Val) rs375860547
NM_173551.5(ANKS6):c.744C>T (p.Gly248=)
NM_173551.5(ANKS6):c.74C>T (p.Ala25Val)
NM_173551.5(ANKS6):c.750C>G (p.Asn250Lys)
NM_173551.5(ANKS6):c.836C>T (p.Pro279Leu)
NM_173551.5(ANKS6):c.837G>T (p.Pro279=)
NM_173551.5(ANKS6):c.846C>T (p.Thr282=)
NM_173551.5(ANKS6):c.862+19dup
NM_173551.5(ANKS6):c.907+2T>A rs1438673595
NM_173551.5(ANKS6):c.907+6C>T rs372343956
NM_173551.5(ANKS6):c.907+8C>G rs775680028
NM_173551.5(ANKS6):c.915C>A (p.Phe305Leu) rs765738085
NM_173551.5(ANKS6):c.934G>C (p.Ala312Pro) rs1834431706
NM_173551.5(ANKS6):c.938A>C (p.Asp313Ala) rs1834431047
NM_173551.5(ANKS6):c.983C>T (p.Thr328Met)
NM_173551.5(ANKS6):c.994C>G (p.Leu332Val)
NM_173551.5(ANKS6):c.996A>G (p.Leu332=)

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