ClinVar Miner

List of variants in gene COA7 reported as pathogenic for Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_023077.3(COA7):c.17A>G (p.Asp6Gly)	rs780572767	0.00001
NM_023077.3(COA7):c.247+1G>T	rs1197945739

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