ClinVar Miner

List of variants studied for Wolfram syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_006005.3(WFS1):c.1237TTC[1] (p.Phe414del) rs797046112
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter) rs369107336
NM_006005.3(WFS1):c.409_424dup (p.Val142fs) rs1362648752
NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter) rs777580652

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