ClinVar Miner

List of variants in gene WFS1 reported as pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_006005.3(WFS1):c.1060_1062del (p.Phe354del) rs876657735
NM_006005.3(WFS1):c.1243_1245del (p.Val415del) rs863224265
NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs) rs727503745
NM_006005.3(WFS1):c.1620G>A (p.Trp540Ter) rs1038816435
NM_006005.3(WFS1):c.1949_1950del (p.Tyr650fs) rs1730930342
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2054G>C (p.Arg685Pro) rs142668478
NM_006005.3(WFS1):c.2141A>C (p.Asn714Thr) rs397517196
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) rs28937893
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205

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