ClinVar Miner

List of variants in gene WFS1 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215 0.01494
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
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.2356G>A (p.Gly786Ser) rs71578980 0.00239
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_006005.3(WFS1):c.712+16G>A rs71524367 0.00213
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404 0.00205
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242 0.00183
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) rs35218685 0.00160
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
NM_006005.3(WFS1):c.1152C>T (p.Phe384=) rs149846741 0.00076
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336 0.00048
NM_006005.3(WFS1):c.2436C>T (p.Ser812=) rs142630687 0.00030
NM_006005.3(WFS1):c.1470C>T (p.Thr490=) rs146027767 0.00025
NM_006005.3(WFS1):c.2250C>T (p.Ala750=) rs369498603 0.00023
NM_006005.3(WFS1):c.1758C>T (p.Ala586=) rs145144527 0.00021
NM_006005.3(WFS1):c.2563T>C (p.Ser855Pro) rs141833472 0.00021
NM_006005.3(WFS1):c.1632C>T (p.Ser544=) rs140115060 0.00020
NM_006005.3(WFS1):c.2013G>A (p.Ala671=) rs147262416 0.00016
NM_006005.3(WFS1):c.471C>T (p.Ser157=) rs71524347 0.00016
NM_006005.3(WFS1):c.2667G>A (p.Ala889=) rs71526454 0.00015
NM_006005.3(WFS1):c.1893C>T (p.Ser631=) rs773312242 0.00014
NM_006005.3(WFS1):c.1656C>T (p.Thr552=) rs141477172 0.00006
NM_006005.3(WFS1):c.1791C>T (p.Ile597=) rs141883293 0.00006
NM_006005.3(WFS1):c.2208C>T (p.Gly736=) rs141020933 0.00006
NM_006005.3(WFS1):c.504C>T (p.Ser168=) rs71537675 0.00006
NM_006005.3(WFS1):c.588C>T (p.Ala196=) rs544230639 0.00006
NM_006005.3(WFS1):c.642G>A (p.Ala214=) rs761245713 0.00006
NM_006005.3(WFS1):c.69G>A (p.Ala23=) rs750859280 0.00006
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) rs377539343 0.00004
NM_006005.3(WFS1):c.2664G>A (p.Ser888=) rs756116434 0.00004
NM_006005.3(WFS1):c.1425C>T (p.Pro475=) rs370846103 0.00002
NM_006005.3(WFS1):c.2379C>T (p.Arg793=) rs563113081 0.00002
NM_006005.3(WFS1):c.981C>T (p.Leu327=) rs1257021150 0.00002
NM_006005.3(WFS1):c.1365G>A (p.Thr455=) rs769749907 0.00001
NM_006005.3(WFS1):c.1134C>T (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.1230C>T (p.Leu410=)
NM_006005.3(WFS1):c.1653C>T (p.Ser551=) rs766730980
NM_006005.3(WFS1):c.1656C>G (p.Thr552=) rs141477172
NM_006005.3(WFS1):c.1692C>T (p.Phe564=) rs140643985
NM_006005.3(WFS1):c.2202C>G (p.Leu734=)
NM_006005.3(WFS1):c.233-4197T>C
NM_006005.3(WFS1):c.2387ACG[3] (p.Asp797dup) rs397517197
NM_006005.3(WFS1):c.2580C>T (p.His860=) rs754802246
NM_006005.3(WFS1):c.396C>G (p.Leu132=) rs369759802
NM_006005.3(WFS1):c.510C>T (p.Thr170=) rs151277039
NM_006005.3(WFS1):c.876C>G (p.Pro292=) rs1159812254

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