ClinVar Miner

List of variants in gene ATCAY reported as likely benign for autosomal recessive congenital cerebellar ataxia

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_033064.5(ATCAY):c.137-11T>C rs73919387 0.02031
NM_033064.5(ATCAY):c.*2692G>A rs117794052 0.00870
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_033064.5(ATCAY):c.*3108C>T rs143949702 0.00262
NM_033064.5(ATCAY):c.615C>A (p.Pro205=) rs112563476 0.00073
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.426G>A (p.Thr142=) rs373080859 0.00031
NM_033064.5(ATCAY):c.*3376C>T rs76339349 0.00011
NM_033064.5(ATCAY):c.*309C>T rs541933098 0.00005
NM_033064.4(ATCAY):c.-424delC rs564678183
NM_033064.5(ATCAY):c.*441G>C rs117035326
NM_033064.5(ATCAY):c.*758C>T rs116954582

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