ClinVar Miner

List of variants in gene WFS1 reported as uncertain significance by Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) rs149013740 0.00083
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr) rs144900514 0.00045
NM_006005.3(WFS1):c.799G>A (p.Asp267Asn) rs145677667 0.00031
NM_006005.3(WFS1):c.1124G>A (p.Arg375His) rs142671083 0.00029
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) rs142668478 0.00014
NM_006005.3(WFS1):c.173C>T (p.Ala58Val) rs369671890 0.00009
NM_006005.3(WFS1):c.1759C>T (p.Arg587Trp) rs138968466 0.00009
NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr) rs757027394 0.00005
NM_006005.3(WFS1):c.418G>A (p.Glu140Lys) rs948101237 0.00004

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