ClinVar Miner

Variants in gene ABCC8 with conflicting interpretations

See also:
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 per condition Variants with at least 2 submissions on the same condition 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 conflict
663 52 0 45 41 0 6 88

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 0 17 3 0 0
likely pathogenic 17 0 4 0 0
uncertain significance 3 4 0 35 9
likely benign 0 0 35 0 28
benign 0 0 9 28 0

All variants with conflicting interpretations #

Total variants: 88
Download table as spreadsheet
HGVS dbSNP
NM_000352.4(ABCC8):c.-72G>A rs541244107
NM_000352.5(ABCC8):c.1672-20A>G rs931436550
NM_000352.5(ABCC8):c.1924-10C>T rs200823913
NM_000352.5(ABCC8):c.2041-12C>T rs201419039
NM_000352.5(ABCC8):c.4119+1G>A rs797045211
NM_000352.5(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.-8G>T rs200091822
NM_000352.6(ABCC8):c.105G>A (p.Pro35=) rs199925058
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=) rs1256418853
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=) rs148811815
NM_000352.6(ABCC8):c.1536C>T (p.Tyr512=) rs765090096
NM_000352.6(ABCC8):c.1644G>T (p.Thr548=) rs565996783
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857
NM_000352.6(ABCC8):c.1818-6G>A rs368708177
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val) rs148709148
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861
NM_000352.6(ABCC8):c.279C>A (p.Ile93=) rs550990673
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs) rs1554913069
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678
NM_000352.6(ABCC8):c.3039G>A (p.Ser1013=) rs17846762
NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=) rs201662945
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) rs761749884
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=) rs186634115
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=) rs372257088
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)
NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=)
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) rs1266053680
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000352.6(ABCC8):c.3918C>G (p.Leu1306=) rs372186045
NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=) rs137868047
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427
NM_000352.6(ABCC8):c.3989-10C>T rs373737642
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=)
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676
NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=) rs146584228
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=) rs752222583
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.6(ABCC8):c.4314C>T (p.Asn1438=) rs752809991
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371
NM_000352.6(ABCC8):c.4482C>T (p.Ala1494=) rs374853931
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833
NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=) rs773042150
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=) rs145386421
NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln) rs374743072
NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=)
NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser) rs574487898
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_001287174.2(ABCC8):c.1332+4del rs587783164
NM_001287174.2(ABCC8):c.1630+10C>T rs188075767
NM_001287174.2(ABCC8):c.2117-3C>T rs1799854
NM_001287174.2(ABCC8):c.2823+17A>G rs2106865
NM_001287174.2(ABCC8):c.291-3C>T rs764107333
NM_001287174.2(ABCC8):c.3332+6C>T rs113873225
NM_001287174.2(ABCC8):c.3561-7G>A rs900191703
NM_001287174.2(ABCC8):c.3870+7G>A rs372198547
NM_001287174.2(ABCC8):c.4123-19C>T rs1800853
NM_001287174.2(ABCC8):c.579+14C>T rs2301703
NM_001287174.2(ABCC8):c.822+20C>T rs181998151

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.