ClinVar Miner

List of variants in gene ATCAY studied for Cayman type cerebellar ataxia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_033064.5(ATCAY):c.*2586A>G rs8104659 0.72881
NM_033064.5(ATCAY):c.*823C>T rs10424392 0.39386
NM_033064.5(ATCAY):c.*3181G>A rs10412199 0.37873
NM_033064.5(ATCAY):c.1074-14T>C rs10420591 0.16262
NM_033064.5(ATCAY):c.*1586T>C rs10411454 0.03139
NM_033064.5(ATCAY):c.*806A>G rs73919392 0.03009
NM_033064.5(ATCAY):c.*976C>G rs73919393 0.02901
NM_033064.5(ATCAY):c.*1542C>T rs10404967 0.02886
NM_033064.5(ATCAY):c.*1036G>C rs73919394 0.02206
NM_033064.5(ATCAY):c.137-11T>C rs73919387 0.02031
NM_033064.5(ATCAY):c.*507G>C rs116813246 0.01949
NM_033064.5(ATCAY):c.*2026G>A rs147402942 0.01676
NM_033064.5(ATCAY):c.*1423T>A rs184437292 0.01635
NM_033064.5(ATCAY):c.*1235T>C rs148116098 0.01449
NM_033064.5(ATCAY):c.*1190G>A rs143684746 0.01134
NM_033064.5(ATCAY):c.866+6A>G rs116660680 0.01088
NM_033064.5(ATCAY):c.810C>T (p.Ile270=) rs61746441 0.01075
NM_033064.5(ATCAY):c.*2514A>G rs142048723 0.00992
NM_033064.5(ATCAY):c.*486A>C rs115839391 0.00924
NM_033064.5(ATCAY):c.*3154C>T rs116311313 0.00916
NM_033064.5(ATCAY):c.*2692G>A rs117794052 0.00870
NM_033064.5(ATCAY):c.*2394C>T rs10406812 0.00732
NM_033064.5(ATCAY):c.*1180C>T rs140608538 0.00683
NM_033064.5(ATCAY):c.*7G>A rs60814801 0.00577
NM_033064.5(ATCAY):c.*1193T>A rs192536222 0.00517
NM_033064.5(ATCAY):c.*871T>G rs183948049 0.00396
NM_033064.5(ATCAY):c.*313G>A rs141455019 0.00392
NM_033064.5(ATCAY):c.*26T>C rs190923267 0.00335
NM_033064.5(ATCAY):c.647+10C>T rs181866005 0.00331
NM_033064.4(ATCAY):c.-390A>G rs140876148 0.00318
NM_033064.5(ATCAY):c.98G>A (p.Gly33Glu) rs147031440 0.00290
NM_033064.5(ATCAY):c.*3108C>T rs143949702 0.00262
NM_033064.5(ATCAY):c.*687C>A rs377406299 0.00209
NM_033064.5(ATCAY):c.*3332C>A rs59578136 0.00165
NM_033064.5(ATCAY):c.*1653G>T rs543950349 0.00140
NM_033064.5(ATCAY):c.1053G>A (p.Glu351=) rs369876142 0.00125
NM_033064.5(ATCAY):c.-198C>G rs553381633 0.00106
NM_033064.5(ATCAY):c.1106+10A>T rs199991972 0.00096
NM_033064.5(ATCAY):c.*3203G>A rs539627639 0.00081
NM_033064.5(ATCAY):c.615C>A (p.Pro205=) rs112563476 0.00073
NM_033064.5(ATCAY):c.-241C>T rs376727951 0.00071
NM_033064.5(ATCAY):c.*2282C>T rs759377240 0.00066
NM_033064.5(ATCAY):c.36C>T (p.Asn12=) rs368213837 0.00061
NM_033064.5(ATCAY):c.*1427A>T rs536842684 0.00060
NM_033064.4(ATCAY):c.-398C>A rs186140929 0.00039
NM_033064.5(ATCAY):c.545-8C>T rs370662253 0.00039
NM_033064.5(ATCAY):c.866+7C>T rs140799527 0.00039
NM_033064.5(ATCAY):c.*3404C>T rs540478786 0.00034
NM_033064.5(ATCAY):c.426G>A (p.Thr142=) rs373080859 0.00031
NM_033064.5(ATCAY):c.*681A>G rs772852314 0.00028
NM_033064.5(ATCAY):c.*2668G>A rs555029183 0.00026
NM_033064.5(ATCAY):c.405G>A (p.Ala135=) rs202077180 0.00024
NM_033064.5(ATCAY):c.*212C>T rs764132493 0.00022
NM_033064.5(ATCAY):c.442G>A (p.Ala148Thr) rs200021943 0.00021
NM_033064.5(ATCAY):c.478G>A (p.Gly160Arg) rs374611192 0.00019
NM_033064.5(ATCAY):c.*2289C>T rs1025056968 0.00018
NM_033064.5(ATCAY):c.*1154G>A rs528605076 0.00016
NM_033064.5(ATCAY):c.*728T>C rs371256803 0.00016
NM_033064.5(ATCAY):c.*929G>A rs1007947890 0.00013
NM_033064.5(ATCAY):c.*2311G>A rs186330129 0.00012
NM_033064.5(ATCAY):c.717G>A (p.Thr239=) rs768556456 0.00012
NM_033064.5(ATCAY):c.*3376C>T rs76339349 0.00011
NM_033064.5(ATCAY):c.*1535G>A rs886054422 0.00010
NM_033064.5(ATCAY):c.*1632T>C rs546859649 0.00009
NM_033064.5(ATCAY):c.*2742C>T rs769121113 0.00009
NM_033064.5(ATCAY):c.*740G>A rs569661909 0.00009
NM_033064.5(ATCAY):c.359-14C>T rs753594529 0.00009
NM_033064.5(ATCAY):c.*838G>A rs1306758402 0.00008
NM_033064.5(ATCAY):c.*1409T>C rs886054421 0.00007
NM_033064.5(ATCAY):c.*3136A>T rs569189077 0.00007
NM_033064.5(ATCAY):c.*2395G>A rs550621569 0.00006
NM_033064.5(ATCAY):c.*3377G>A rs975924890 0.00006
NM_033064.5(ATCAY):c.*3415G>A rs546687056 0.00006
NM_033064.5(ATCAY):c.647+14C>T rs755568668 0.00006
NM_033064.5(ATCAY):c.*1801T>C rs537102677 0.00005
NM_033064.5(ATCAY):c.*2265G>A rs886054423 0.00005
NM_033064.5(ATCAY):c.*2996G>A rs886054427 0.00005
NM_033064.5(ATCAY):c.*309C>T rs541933098 0.00005
NM_033064.5(ATCAY):c.*958G>A rs901656902 0.00005
NM_033064.5(ATCAY):c.370G>A (p.Val124Met) rs147684273 0.00005
NM_033064.5(ATCAY):c.*1761C>T rs777283516 0.00004
NM_033064.5(ATCAY):c.*939G>A rs886054419 0.00004
NM_033064.5(ATCAY):c.420C>T (p.Asp140=) rs548256146 0.00004
NM_033064.5(ATCAY):c.957C>T (p.Cys319=) rs370680121 0.00004
NM_033064.5(ATCAY):c.*1217A>C rs1459765640 0.00003
NM_033064.5(ATCAY):c.*3018C>T rs887057996 0.00003
NM_033064.5(ATCAY):c.*420C>T rs1044796308 0.00003
NM_033064.5(ATCAY):c.*512G>A rs964128076 0.00003
NM_033064.5(ATCAY):c.-170C>A rs1034699695 0.00003
NM_033064.5(ATCAY):c.1002C>T (p.Ser334=) rs767813874 0.00003
NM_033064.5(ATCAY):c.283G>A (p.Val95Met) rs1381590154 0.00003
NM_033064.5(ATCAY):c.568G>A (p.Ala190Thr) rs537155754 0.00003
NM_033064.5(ATCAY):c.*1167G>A rs751398427 0.00002
NM_033064.5(ATCAY):c.*1276G>A rs974409532 0.00002
NM_033064.5(ATCAY):c.544+6dup rs749475336 0.00002
NM_033064.5(ATCAY):c.*1181G>A rs530991790 0.00001
NM_033064.5(ATCAY):c.*2356C>T rs886054425 0.00001
NM_033064.5(ATCAY):c.*3124C>T rs2039079791 0.00001
NM_033064.5(ATCAY):c.*612C>T rs2039056211 0.00001
NM_033064.5(ATCAY):c.-176C>T rs911941440 0.00001
NM_033064.5(ATCAY):c.-41-13G>A rs529428286 0.00001
NM_033064.5(ATCAY):c.1060C>T (p.Pro354Ser) rs756401076 0.00001
NM_033064.5(ATCAY):c.379G>A (p.Ala127Thr) rs756591751 0.00001
NM_033064.5(ATCAY):c.402C>T (p.Ser134=) rs564040857 0.00001
NM_033064.4(ATCAY):c.-375G>T rs886054373
NM_033064.4(ATCAY):c.-424delC rs564678183
NM_033064.5(ATCAY):c.*1051T>C rs1599152069
NM_033064.5(ATCAY):c.*1188G>T rs886054420
NM_033064.5(ATCAY):c.*1322T>G rs960684972
NM_033064.5(ATCAY):c.*143G>A rs537298270
NM_033064.5(ATCAY):c.*1540C>A rs140917952
NM_033064.5(ATCAY):c.*1660T>G rs1463951003
NM_033064.5(ATCAY):c.*192_*193del rs796133913
NM_033064.5(ATCAY):c.*193del rs796133913
NM_033064.5(ATCAY):c.*1978G>A rs918032296
NM_033064.5(ATCAY):c.*2297C>A rs886054424
NM_033064.5(ATCAY):c.*2357G>C rs551091925
NM_033064.5(ATCAY):c.*2426C>T rs886054426
NM_033064.5(ATCAY):c.*2497C>T rs143923838
NM_033064.5(ATCAY):c.*266C>T rs867087852
NM_033064.5(ATCAY):c.*3202G>A rs1293185068
NM_033064.5(ATCAY):c.*3319C>T rs2039082103
NM_033064.5(ATCAY):c.*391C>A rs765579267
NM_033064.5(ATCAY):c.*391C>T rs765579267
NM_033064.5(ATCAY):c.*430G>T rs866573378
NM_033064.5(ATCAY):c.*441G>A rs117035326
NM_033064.5(ATCAY):c.*441G>C rs117035326
NM_033064.5(ATCAY):c.*496C>A rs886054417
NM_033064.5(ATCAY):c.*599T>C rs571828838
NM_033064.5(ATCAY):c.*608G>C rs926357788
NM_033064.5(ATCAY):c.*758C>T rs116954582
NM_033064.5(ATCAY):c.*813G>C rs886054418
NM_033064.5(ATCAY):c.-41-1022G>A
NM_033064.5(ATCAY):c.1043A>G (p.Glu348Gly)
NM_033064.5(ATCAY):c.162C>T (p.Asn54=) rs373392142
NM_033064.5(ATCAY):c.544+16dup rs140914543
NM_033064.5(ATCAY):c.545-65T>C rs3810373
NM_033064.5(ATCAY):c.552C>G (p.Tyr184Ter)
NM_033064.5(ATCAY):c.555C>A (p.Gly185=) rs367736161
NM_033064.5(ATCAY):c.602_608del (p.Asp201fs) rs2145248615
NM_033064.5(ATCAY):c.647+15G>A rs117167523
NM_033064.5(ATCAY):c.647+15G>C rs117167523
NM_033064.5(ATCAY):c.678G>A (p.Val226=) rs886054415
NM_033064.5(ATCAY):c.721C>T (p.Arg241Trp) rs2038904766
NM_033064.5(ATCAY):c.[903C>G;965+3G>T]

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