ClinVar Miner

Variants in gene WFS1 with conflicting interpretations

Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
263 125 2 70 30 0 10 95

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 8 5 1 1
likely pathogenic 8 0 5 0 0
uncertain significance 5 5 0 30 13
likely benign 1 0 30 1 62
benign 1 0 13 62 0

All variants with conflicting interpretations #

Total variants: 95
Download table as spreadsheet
HGVS dbSNP
NM_006005.3(WFS1):c.1015G>A (p.Asp339Asn) rs772392224
NM_006005.3(WFS1):c.1023C>T (p.Phe341=) rs56072215
NM_006005.3(WFS1):c.1134C>A (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.1152C>T (p.Phe384=) rs149846741
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) rs35218685
NM_006005.3(WFS1):c.1290G>A (p.Ser430=) rs752100338
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208
NM_006005.3(WFS1):c.1395C>T (p.Ala465=) rs71530905
NM_006005.3(WFS1):c.143C>T (p.Ala48Val) rs397517195
NM_006005.3(WFS1):c.1491C>T (p.Val497=) rs148310584
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242
NM_006005.3(WFS1):c.1554G>A (p.Met518Ile) rs138232538
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083
NM_006005.3(WFS1):c.1632C>T (p.Ser544=) rs140115060
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513
NM_006005.3(WFS1):c.1683C>T (p.Ile561=) rs71530906
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069
NM_006005.3(WFS1):c.173C>T (p.Ala58Val) rs369671890
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) rs377539343
NM_006005.3(WFS1):c.1758C>T (p.Ala586=) rs145144527
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) rs71524362
NM_006005.3(WFS1):c.1801G>A (p.Val601Met) rs147838635
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907
NM_006005.3(WFS1):c.2019C>T (p.Cys673=) rs71524375
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755
NM_006005.3(WFS1):c.2040G>A (p.Glu680=) rs375263408
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) rs28937894
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) rs28937893
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) rs71530908
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) rs149013740
NM_006005.3(WFS1):c.21G>T (p.Pro7=) rs372928810
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269
NM_006005.3(WFS1):c.2247G>A (p.Thr749=) rs75096624
NM_006005.3(WFS1):c.227G>T (p.Gly76Val) rs200135768
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2370G>C (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys) rs201078003
NM_006005.3(WFS1):c.2390_2392dupACG (p.Asp797_Val798insAsp) rs397517197
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336
NM_006005.3(WFS1):c.2425G>A (p.Glu809Lys) rs71539673
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) rs104893883
NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp) rs28937895
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618
NM_006005.3(WFS1):c.2580C>T (p.His860=) rs754802246
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945
NM_006005.3(WFS1):c.2603G>A (p.Arg868His) rs56393026
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874
NM_006005.3(WFS1):c.2648_2651delTCTT (p.Phe883Serfs) rs797045076
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) rs112871383
NM_006005.3(WFS1):c.342C>T (p.Ala114=) rs201151892
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349
NM_006005.3(WFS1):c.402G>A (p.Ala134=) rs199533137
NM_006005.3(WFS1):c.41A>G (p.Gln14Arg) rs142651446
NM_006005.3(WFS1):c.461-9A>G rs10010131
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085
NM_006005.3(WFS1):c.510C>G (p.Thr170=) rs151277039
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213
NM_006005.3(WFS1):c.712+16G>A rs71524367
NM_006005.3(WFS1):c.726C>T (p.Ile242=) rs71524381
NM_006005.3(WFS1):c.825G>A (p.Ala275=) rs566634291
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404
NM_006005.3(WFS1):c.911_914dupTTGA (p.Met306Terfs) rs863224264
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074
NM_006005.3(WFS1):c.975C>T (p.Asn325=) rs141177727
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363

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