ClinVar Miner

List of variants studied for Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu) rs1422686570 0.00004
NM_018896.5(CACNA1G):c.4151G>A (p.Arg1384Gln) rs1260560600

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