ClinVar Miner

List of variants in gene WFS1 reported as pathogenic by Constantin Polychronakos Laboratory, The Research Institute of the McGill University Health Centre

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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.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.1839G>A (p.Trp613Ter) rs143064649 0.00003
NM_006005.3(WFS1):c.1362_1377del (p.Pro453_Tyr454insTer) rs1730884546
NM_006005.3(WFS1):c.1514G>A (p.Cys505Tyr) rs1445355190
NM_006005.3(WFS1):c.2015T>C (p.Leu672Pro) rs1222900668
NM_006005.3(WFS1):c.817G>T (p.Glu273Ter) rs142428158

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