ClinVar Miner

List of variants in gene WFS1 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349 0.00279
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser) rs147974629 0.00021
NM_006005.3(WFS1):c.1377G>A (p.Leu459=) rs143672793 0.00019
NM_006005.3(WFS1):c.1479C>T (p.Val493=) rs750126396 0.00006
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) rs377539343 0.00004
NM_006005.3(WFS1):c.1038G>A (p.Pro346=) rs143886476
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) rs111773340
NM_006005.3(WFS1):c.2013G>T (p.Ala671=)
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup) rs397517197
NM_006005.3(WFS1):c.350C>T (p.Thr117Met) rs141225426
NM_006005.3(WFS1):c.57G>C (p.Pro19=)
NM_006005.3(WFS1):c.943C>T (p.Leu315=)

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