ClinVar Miner

Variants in gene ABCG8 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:

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
621 230 0 42 74 0 5 106

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 13 4 0 0
likely pathogenic 13 0 3 0 0
uncertain significance 4 3 0 73 14
likely benign 0 0 73 0 29
benign 0 0 14 29 0

All variants with conflicting interpretations #

Total variants: 106
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_022437.3(ABCG8):c.239G>A (p.Cys80Tyr) rs80025980 0.02377
NM_022437.3(ABCG8):c.628G>A (p.Val210Met) rs9282574 0.01336
NM_022437.3(ABCG8):c.94A>G (p.Ser32Gly) rs148370122 0.00831
NM_022437.3(ABCG8):c.1365C>T (p.Ile455=) rs115227860 0.00629
NM_022437.3(ABCG8):c.1963A>G (p.Met655Val) rs9282573 0.00498
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=) rs145756111 0.00401
NM_022437.3(ABCG8):c.1716C>T (p.Leu572=) rs116046586 0.00382
NM_022437.3(ABCG8):c.1782C>T (p.Ser594=) rs139835626 0.00382
NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln) rs74358901 0.00232
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355 0.00179
NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met) rs140778634 0.00158
NM_022437.3(ABCG8):c.1170G>A (p.Thr390=) rs139902223 0.00144
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=) rs139677898 0.00123
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr) rs140690030 0.00103
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys) rs34754243 0.00099
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr) rs113005049 0.00096
NM_022437.3(ABCG8):c.1941C>G (p.Val647=) rs147991100 0.00094
NM_022437.3(ABCG8):c.1656G>A (p.Leu552=) rs145341486 0.00092
NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala) rs114404835 0.00088
NM_022437.3(ABCG8):c.1411+8T>A rs201991639 0.00074
NM_022437.3(ABCG8):c.576C>T (p.Ile192=) rs148058949 0.00060
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=) rs147582834 0.00052
NM_022437.3(ABCG8):c.1416C>T (p.Tyr472=) rs144399404 0.00051
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn) rs148456883 0.00043
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu) rs150654176 0.00039
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=) rs146046068 0.00036
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys) rs150890296 0.00035
NM_022437.3(ABCG8):c.729C>T (p.Leu243=) rs145482605 0.00035
NM_022437.3(ABCG8):c.1226A>G (p.Asn409Ser) rs150977210 0.00026
NM_022437.3(ABCG8):c.888G>T (p.Ala296=) rs143182625 0.00026
NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr) rs149441561 0.00023
NM_022437.3(ABCG8):c.322+6G>A rs181319879 0.00021
NM_022437.3(ABCG8):c.1756+16G>A rs182440594 0.00019
NM_022437.3(ABCG8):c.694+16G>A rs768575372 0.00017
NM_022437.3(ABCG8):c.342G>A (p.Leu114=) rs150970273 0.00015
NM_022437.3(ABCG8):c.1569A>G (p.Pro523=) rs575386215 0.00014
NM_022437.3(ABCG8):c.1647C>T (p.Ala549=) rs369736263 0.00014
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) rs137852991 0.00013
NM_022437.3(ABCG8):c.578C>T (p.Ala193Val) rs376362072 0.00012
NM_022437.3(ABCG8):c.1212-7T>A rs759300542 0.00011
NM_022437.3(ABCG8):c.546C>T (p.Ala182=) rs774395087 0.00010
NM_022437.3(ABCG8):c.694+5G>C rs557890655 0.00009
NM_022437.3(ABCG8):c.870C>T (p.Thr290=) rs117221284 0.00009
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=) rs145754381 0.00008
NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro) rs769576789 0.00008
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) rs137852989 0.00008
NM_022437.3(ABCG8):c.1200G>A (p.Thr400=) rs369131115 0.00007
NM_022437.3(ABCG8):c.351G>A (p.Val117=) rs41281459 0.00007
NM_022437.3(ABCG8):c.450C>T (p.His150=) rs200013237 0.00007
NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe) rs547583131 0.00007
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00006
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 0.00006
NM_022437.3(ABCG8):c.1353C>T (p.Leu451=) rs373560827 0.00005
NM_022437.3(ABCG8):c.1877G>T (p.Gly626Val) rs763289865 0.00005
NM_022437.3(ABCG8):c.1106A>T (p.Asp369Val) rs148185316 0.00004
NM_022437.3(ABCG8):c.1127+14C>T rs377097108 0.00004
NM_022437.3(ABCG8):c.1488+5C>T rs373395114 0.00004
NM_022437.3(ABCG8):c.331A>C (p.Arg111=) rs752358589 0.00004
NM_022437.3(ABCG8):c.369C>T (p.His123=) rs139859350 0.00004
NM_022437.3(ABCG8):c.1125A>G (p.Glu375=) rs371968769 0.00003
NM_022437.3(ABCG8):c.165+10C>T rs574722652 0.00003
NM_022437.3(ABCG8):c.642G>A (p.Ser214=) rs202198142 0.00003
NM_022437.3(ABCG8):c.1213C>T (p.Arg405Cys) rs199553576 0.00002
NM_022437.3(ABCG8):c.1557C>T (p.Ala519=) rs368114257 0.00002
NM_022437.3(ABCG8):c.1596C>T (p.Phe532=) rs374820261 0.00002
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser) rs548098742 0.00002
NM_022437.3(ABCG8):c.2013A>G (p.Gln671=) rs373862876 0.00002
NM_022437.3(ABCG8):c.632G>A (p.Arg211Gln) rs777288244 0.00002
NM_022437.3(ABCG8):c.695-7T>C rs374648568 0.00002
NM_022437.3(ABCG8):c.1059G>C (p.Val353=) rs751866338 0.00001
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg) rs554680915 0.00001
NM_022437.3(ABCG8):c.1211+7A>T rs568899040 0.00001
NM_022437.3(ABCG8):c.1212-10G>C rs765938367 0.00001
NM_022437.3(ABCG8):c.1488+14G>T rs752255874 0.00001
NM_022437.3(ABCG8):c.1522A>G (p.Ile508Val) rs1553383983 0.00001
NM_022437.3(ABCG8):c.1533C>T (p.Tyr511=) rs763640657 0.00001
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter) rs544500542 0.00001
NM_022437.3(ABCG8):c.1789C>A (p.Arg597=) rs776778929 0.00001
NM_022437.3(ABCG8):c.1923C>T (p.Tyr641=) rs369023184 0.00001
NM_022437.3(ABCG8):c.579G>A (p.Ala193=) rs747555833 0.00001
NM_022437.3(ABCG8):c.714A>G (p.Glu238=) rs1326764043 0.00001
NM_022437.3(ABCG8):c.811C>T (p.Gln271Ter) rs371646728 0.00001
NM_022437.3(ABCG8):c.965-1G>C rs957176669 0.00001
NM_022437.3(ABCG8):c.992G>A (p.Ser331Asn) rs751950437 0.00001
NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser) rs145373839
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys) rs4148217
NM_022437.3(ABCG8):c.1199C>T (p.Thr400Met) rs4148217
NM_022437.3(ABCG8):c.1256_1257delinsAA (p.Ile419Lys) rs2104947166
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) rs147194762
NM_022437.3(ABCG8):c.1293C>A (p.Ile431=) rs202176869
NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu) rs558635043
NM_022437.3(ABCG8):c.165+16G>T rs368992754
NM_022437.3(ABCG8):c.1756+15C>T rs78577353
NM_022437.3(ABCG8):c.1756+6G>A rs375563605
NM_022437.3(ABCG8):c.1756+6G>T rs375563605
NM_022437.3(ABCG8):c.1757-4C>G rs765522418
NM_022437.3(ABCG8):c.1884+9G>A rs759152941
NM_022437.3(ABCG8):c.1885-7T>C rs1485558944
NM_022437.3(ABCG8):c.547del (p.Gln183fs) rs387906323
NM_022437.3(ABCG8):c.576C>A (p.Ile192=) rs148058949
NM_022437.3(ABCG8):c.647_657dup (p.Arg220fs) rs1456237152
NM_022437.3(ABCG8):c.695-17CT[2] rs9282576
NM_022437.3(ABCG8):c.768C>T (p.Ser256=) rs1558811634
NM_022437.3(ABCG8):c.881T>G (p.Leu294Ter) rs762279471

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