ClinVar Miner

Variants in gene ABCC8 with conflicting interpretations

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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
346 67 9 57 30 0 10 100

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 7 24 4 0 0
likely pathogenic 24 0 6 0 0
uncertain significance 4 6 2 28 7
likely benign 0 0 28 0 33
benign 0 0 7 33 0

All variants with conflicting interpretations #

Total variants: 100
Download table as spreadsheet
HGVS dbSNP
NM_000352.4(ABCC8):c.-72G>A rs541244107
NM_001287174.2(ABCC8):c.-19A>G rs193922394
NM_001287174.2(ABCC8):c.-8G>T rs200091822
NM_001287174.2(ABCC8):c.105G>A (p.Pro35=) rs199925058
NM_001287174.2(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257
NM_001287174.2(ABCC8):c.1144G>A (p.Glu382Lys) rs80356651
NM_001287174.2(ABCC8):c.1158C>T (p.Asn386=) rs60824529
NM_001287174.2(ABCC8):c.1332+4del rs587783164
NM_001287174.2(ABCC8):c.1384A>G (p.Ile462Val) rs117874766
NM_001287174.2(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790
NM_001287174.2(ABCC8):c.1572G>A (p.Thr524=) rs61748766
NM_001287174.2(ABCC8):c.1630+10C>T rs188075767
NM_001287174.2(ABCC8):c.1672-20A>G rs931436550
NM_001287174.2(ABCC8):c.1678G>A (p.Val560Met) rs4148619
NM_001287174.2(ABCC8):c.1686C>T (p.His562=) rs1799857
NM_001287174.2(ABCC8):c.1707C>T (p.Ala569=) rs147623093
NM_001287174.2(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_001287174.2(ABCC8):c.1874C>T (p.Ala625Val) rs148709148
NM_001287174.2(ABCC8):c.1879del (p.His627fs) rs764613146
NM_001287174.2(ABCC8):c.1920G>A (p.Ala640=) rs146156937
NM_001287174.2(ABCC8):c.1924-10C>T rs200823913
NM_001287174.2(ABCC8):c.1926C>G (p.Pro642=) rs75376282
NM_001287174.2(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_001287174.2(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237
NM_001287174.2(ABCC8):c.2041-12C>T rs201419039
NM_001287174.2(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_001287174.2(ABCC8):c.2117-12C>A rs193922398
NM_001287174.2(ABCC8):c.2117-3C>T rs1799854
NM_001287174.2(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_001287174.2(ABCC8):c.215A>G (p.Asn72Ser) rs80356634
NM_001287174.2(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_001287174.2(ABCC8):c.2222+1G>T rs1554923999
NM_001287174.2(ABCC8):c.2280C>T (p.Thr760=) rs1801261
NM_001287174.2(ABCC8):c.2488C>T (p.Leu830=) rs1805036
NM_001287174.2(ABCC8):c.2509C>T (p.Arg837Ter) rs72559722
NM_001287174.2(ABCC8):c.2525G>A (p.Arg842Gln) rs547150342
NM_001287174.2(ABCC8):c.2541C>T (p.His847=) rs73423037
NM_001287174.2(ABCC8):c.257T>G (p.Val86Gly) rs193929360
NM_001287174.2(ABCC8):c.2613C>T (p.Ala871=) rs111967655
NM_001287174.2(ABCC8):c.2698-1G>C rs1057517420
NM_001287174.2(ABCC8):c.279C>A (p.Ile93=) rs550990673
NM_001287174.2(ABCC8):c.2800C>T (p.Arg934Ter) rs570388861
NM_001287174.2(ABCC8):c.2823+17A>G rs2106865
NM_001287174.2(ABCC8):c.2860C>T (p.Gln954Ter) rs541269678
NM_001287174.2(ABCC8):c.291-3C>T rs764107333
NM_001287174.2(ABCC8):c.2995C>T (p.Arg999Ter) rs769518471
NM_001287174.2(ABCC8):c.3133_3152del (p.Thr1045fs) rs886041392
NM_001287174.2(ABCC8):c.3206C>T (p.Thr1069Met) rs139524121
NM_001287174.2(ABCC8):c.330C>T (p.Ala110=) rs8192695
NM_001287174.2(ABCC8):c.331G>A (p.Gly111Arg) rs761749884
NM_001287174.2(ABCC8):c.3332+6C>T rs113873225
NM_001287174.2(ABCC8):c.3348G>A (p.Thr1116=) rs186634115
NM_001287174.2(ABCC8):c.3402+13G>A rs182340196
NM_001287174.2(ABCC8):c.3438C>T (p.Ser1146=) rs371089976
NM_001287174.2(ABCC8):c.3548G>A (p.Arg1183Gln) rs193922400
NM_001287174.2(ABCC8):c.354C>T (p.Val118=) rs137873871
NM_001287174.2(ABCC8):c.3557C>A (p.Ser1186Tyr) rs193929369
NM_001287174.2(ABCC8):c.3561-7G>A rs900191703
NM_001287174.2(ABCC8):c.3561-8C>T rs544550330
NM_001287174.2(ABCC8):c.3577del (p.Asp1193fs) rs1057516317
NM_001287174.2(ABCC8):c.3643C>T (p.Arg1215Trp) rs139964066
NM_001287174.2(ABCC8):c.3822G>A (p.Arg1274=) rs1799859
NM_001287174.2(ABCC8):c.3870+7G>A rs372198547
NM_001287174.2(ABCC8):c.394T>C (p.Phe132Leu) rs80356637
NM_001287174.2(ABCC8):c.3954C>G (p.Leu1318=) rs765708759
NM_001287174.2(ABCC8):c.3978C>T (p.Tyr1326=) rs138141427
NM_001287174.2(ABCC8):c.3992-10C>T rs373737642
NM_001287174.2(ABCC8):c.4093G>A (p.Val1365Ile) rs138642224
NM_001287174.2(ABCC8):c.4108G>T (p.Ala1370Ser) rs757110
NM_001287174.2(ABCC8):c.4122+1G>A rs797045211
NM_001287174.2(ABCC8):c.4123-19C>T rs1800853
NM_001287174.2(ABCC8):c.413-5G>A rs186946111
NM_001287174.2(ABCC8):c.4135G>C (p.Gly1379Arg) rs925231098
NM_001287174.2(ABCC8):c.4181G>A (p.Arg1394His) rs769279368
NM_001287174.2(ABCC8):c.4201G>A (p.Gly1401Arg) rs137852676
NM_001287174.2(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_001287174.2(ABCC8):c.4242G>T (p.Pro1414=) rs373478721
NM_001287174.2(ABCC8):c.4261C>T (p.Arg1421Cys) rs28938469
NM_001287174.2(ABCC8):c.4273A>G (p.Ile1425Val) rs80356653
NM_001287174.2(ABCC8):c.4309C>T (p.Arg1437Ter) rs193922402
NM_001287174.2(ABCC8):c.4311-2A>G rs886041391
NM_001287174.2(ABCC8):c.4379T>G (p.Leu1460Arg) rs971604271
NM_001287174.2(ABCC8):c.4414G>A (p.Asp1472Asn) rs72559716
NM_001287174.2(ABCC8):c.4415-14C>T rs193922404
NM_001287174.2(ABCC8):c.4434C>T (p.Gly1478=) rs145673861
NM_001287174.2(ABCC8):c.4435G>A (p.Gly1479Arg) rs72559715
NM_001287174.2(ABCC8):c.4480C>T (p.Arg1494Trp) rs28936371
NM_001287174.2(ABCC8):c.4485C>T (p.Ala1495=) rs374853931
NM_001287174.2(ABCC8):c.4545C>A (p.Ala1515=) rs113282901
NM_001287174.2(ABCC8):c.4566G>T (p.Lys1522Asn) rs142272833
NM_001287174.2(ABCC8):c.4594A>C (p.Thr1532Pro) rs796891223
NM_001287174.2(ABCC8):c.4618G>A (p.Val1540Met) rs193922408
NM_001287174.2(ABCC8):c.4631T>C (p.Leu1544Pro) rs72559713
NM_001287174.2(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_001287174.2(ABCC8):c.579+14C>T rs2301703
NM_001287174.2(ABCC8):c.62T>A (p.Val21Asp) rs200670692
NM_001287174.2(ABCC8):c.638T>G (p.Leu213Arg) rs80356642
NM_001287174.2(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_001287174.2(ABCC8):c.822+20C>T rs181998151
NM_001287174.2(ABCC8):c.824G>A (p.Arg275Gln) rs185040406

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