ClinVar Miner

List of variants in gene ATCAY reported as uncertain significance for Cayman type cerebellar ataxia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_033064.5(ATCAY):c.*1193T>A rs192536222 0.00517
NM_033064.5(ATCAY):c.98G>A (p.Gly33Glu) rs147031440 0.00290
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.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.*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_033064.5(ATCAY):c.*3404C>T rs540478786 0.00034
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.*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.*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_033064.5(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.*1660T>G rs1463951003
NM_033064.5(ATCAY):c.*192_*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.*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.*496C>A rs886054417
NM_033064.5(ATCAY):c.*599T>C rs571828838
NM_033064.5(ATCAY):c.*608G>C rs926357788
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.552C>G (p.Tyr184Ter)
NM_033064.5(ATCAY):c.555C>A (p.Gly185=) rs367736161
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

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