ClinVar Miner

List of variants studied for Familial aplasia of the vermis by Department of Medical Genetics, Oslo University Hospital

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_015373.4(CBY1):c.189_190del (p.Gly64_Val65insTer) rs747514855 0.00002
NM_015373.4(CBY1):c.64_65dup (p.Asn23fs) rs1318058212

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