ClinVar Miner

List of variants studied for Vissers-Bodmer syndrome by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_016284.5(CNOT1):c.1862A>G (p.Lys621Arg) rs149234162 0.00002
NM_016284.5(CNOT1):c.4114C>T (p.Pro1372Ser)
NM_016284.5(CNOT1):c.954T>A (p.Ser318Arg)

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