ClinVar Miner

List of variants in gene WFS1 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06809
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363 0.01435
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) rs35218685 0.00160
NM_006005.3(WFS1):c.2202C>T (p.Leu734=) rs140427062 0.00041
NM_006005.3(WFS1):c.2250C>T (p.Ala750=) rs369498603 0.00023
NM_006005.3(WFS1):c.712+8C>T rs369185545 0.00020
NM_006005.3(WFS1):c.291C>T (p.Ala97=) rs148404077 0.00007
NM_006005.3(WFS1):c.342C>T (p.Ala114=) rs201151892 0.00007
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2563_2565delinsCCG (p.Ser855Pro) rs1560422132

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