ClinVar Miner

List of variants studied for Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome by Genome-Nilou Lab

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002913.5(RFC1):c.4-26G>A rs4975007 0.97561
NM_002913.5(RFC1):c.2541A>G (p.Pro847=) rs2066786 0.55849
NM_002913.5(RFC1):c.2808+36C>G rs2066788 0.52121
NM_002913.5(RFC1):c.331+25G>T rs2306596 0.41060

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