ClinVar Miner

List of variants in gene APTX reported as benign for spinocerebellar ataxia, autosomal recessive, with axonal neuropathy

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.771-12dup rs34600530

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