ClinVar Miner

List of variants studied for cerebellar ataxia by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001372574.1(ATXN2):c.42G>A (p.Gln14=) rs4098854 0.75596
NM_001372574.1(ATXN2):c.-91C>T rs695872 0.61029
NM_001372574.1(ATXN2):c.-162C>G rs695871 0.60874
NM_001372574.1(ATXN2):c.3043-12G>A rs2073950 0.19844
NM_001372574.1(ATXN2):c.57A>G (p.Gln19=) rs76696028 0.13779
NM_001372574.1(ATXN2):c.289-11del rs144235483
NM_001372574.1(ATXN2):c.289-11dup rs144235483
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del) rs10560189

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