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
236 75 9 43 16 0 7 74

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 20 4 0 0
likely pathogenic 20 0 3 0 0
uncertain significance 4 3 2 16 1
likely benign 0 0 16 0 23
benign 0 0 1 23 0

All variants with conflicting interpretations #

Total variants: 74
Download table as spreadsheet
HGVS dbSNP
NM_000352.4(ABCC8):c.-19A>G rs193922394
NM_000352.4(ABCC8):c.-72G>A rs541244107
NM_000352.4(ABCC8):c.-8G>T rs200091822
NM_000352.4(ABCC8):c.1144G>A (p.Glu382Lys) rs80356651
NM_000352.4(ABCC8):c.1158C>T (p.Asn386=) rs60824529
NM_000352.4(ABCC8):c.1332+4del rs587783164
NM_000352.4(ABCC8):c.1384A>G (p.Ile462Val) rs117874766
NM_000352.4(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790
NM_000352.4(ABCC8):c.1572G>A (p.Thr524Thr=) rs61748766
NM_000352.4(ABCC8):c.1672-20A>G
NM_000352.4(ABCC8):c.1686C>T (p.His562=) rs1799857
NM_000352.4(ABCC8):c.1707C>T (p.Ala569=) rs147623093
NM_000352.4(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_000352.4(ABCC8):c.1879del (p.His627Metfs) rs764613146
NM_000352.4(ABCC8):c.1920G>A (p.Ala640=) rs146156937
NM_000352.4(ABCC8):c.1926C>G (p.Pro642=) rs75376282
NM_000352.4(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.4(ABCC8):c.2041-12C>T rs201419039
NM_000352.4(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.4(ABCC8):c.2117-12C>A rs193922398
NM_000352.4(ABCC8):c.2117-3C>T rs1799854
NM_000352.4(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.4(ABCC8):c.215A>G (p.Asn72Ser) rs80356634
NM_000352.4(ABCC8):c.2222+1G>T rs1554923999
NM_000352.4(ABCC8):c.2277C>T (p.Thr759=) rs1801261
NM_000352.4(ABCC8):c.2485C>T (p.Leu829=) rs1805036
NM_000352.4(ABCC8):c.2538C>T (p.His846=) rs73423037
NM_000352.4(ABCC8):c.257T>G (p.Val86Gly) rs193929360
NM_000352.4(ABCC8):c.2610C>T (p.Ala870=) rs111967655
NM_000352.4(ABCC8):c.2695-1G>C rs1057517420
NM_000352.4(ABCC8):c.2820+17A>G rs2106865
NM_000352.4(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678
NM_000352.4(ABCC8):c.291-3C>T rs764107333
NM_000352.4(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471
NM_000352.4(ABCC8):c.3130_3149del rs886041392
NM_000352.4(ABCC8):c.330C>T (p.Ala110=) rs8192695
NM_000352.4(ABCC8):c.331G>A (p.Gly111Arg) rs761749884
NM_000352.4(ABCC8):c.3329+6C>T rs113873225
NM_000352.4(ABCC8):c.3399+13G>A rs182340196
NM_000352.4(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.4(ABCC8):c.354C>T (p.Val118=) rs137873871
NM_000352.4(ABCC8):c.3554C>A (p.Ser1185Tyr) rs193929369
NM_000352.4(ABCC8):c.3574del (p.Asp1192Metfs) rs1057516317
NM_000352.4(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066
NM_000352.4(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000352.4(ABCC8):c.394T>C (p.Phe132Leu) rs80356637
NM_000352.4(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.4(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110
NM_000352.4(ABCC8):c.4119+1G>A rs797045211
NM_000352.4(ABCC8):c.4120-19C>T rs1800853
NM_000352.4(ABCC8):c.413-5G>A rs186946111
NM_000352.4(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.4(ABCC8):c.4178G>A (p.Arg1393His) rs769279368
NM_000352.4(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676
NM_000352.4(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_000352.4(ABCC8):c.4270A>G (p.Ile1424Val) rs80356653
NM_000352.4(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.4(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271
NM_000352.4(ABCC8):c.4411G>A (p.Asp1471Asn) rs72559716
NM_000352.4(ABCC8):c.4412-14C>T rs193922404
NM_000352.4(ABCC8):c.4431C>T (p.Gly1477=) rs145673861
NM_000352.4(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000352.4(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371
NM_000352.4(ABCC8):c.4542C>A (p.Ala1514=) rs113282901
NM_000352.4(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.4(ABCC8):c.579+14C>T rs2301703
NM_000352.4(ABCC8):c.62T>A (p.Val21Asp) rs200670692
NM_000352.4(ABCC8):c.638T>G (p.Leu213Arg) rs80356642
NM_000352.4(ABCC8):c.822+20C>T rs181998151
NM_000352.4(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_001287174.1(ABCC8):c.2509C>T (p.Arg837Ter) rs72559722
NM_001287174.1(ABCC8):c.2800C>T (p.Arg934Ter) rs570388861
NM_001287174.1(ABCC8):c.4261C>T (p.Arg1421Cys) rs28938469
NM_001351297.1(ABCC8):c.1060G>A (p.Ala354Thr) rs145136257

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