ClinVar Miner

Variants with conflicting interpretations studied for Familial Intrahepatic Cholestasis

Coded as:
Minimum review status of the submission for Familial Intrahepatic Cholestasis: Y axis collection method of the submission for Familial Intrahepatic Cholestasis:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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
77 33 0 24 17 0 0 41

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.

All conditions
Familial Intrahepatic Cholestasis likely benign benign
uncertain significance 16 4
likely benign 0 24

Condition to condition summary #

Total conditions: 2
Download table as spreadsheet
Condition 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
not specified 0 12 0 24 16 0 0 40
not provided 0 18 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 41
Download table as spreadsheet
HGVS dbSNP
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser) rs572222881
NM_003742.4(ABCB11):c.1185G>A (p.Glu395=) rs57509552
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367
NM_003742.4(ABCB11):c.1791G>T (p.Val597=) rs11568371
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val) rs11568364
NM_003742.4(ABCB11):c.2412A>G (p.Ala804=) rs11568373
NM_003742.4(ABCB11):c.270T>C (p.Phe90=) rs4148777
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664
NM_003742.4(ABCB11):c.3258A>G (p.Thr1086=) rs11568359
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=) rs113099601
NM_003742.4(ABCB11):c.389+8G>A rs11568363
NM_003742.4(ABCB11):c.402C>T (p.Ile134=) rs11568377
NM_003742.4(ABCB11):c.930C>T (p.Phe310=) rs372382608
NM_005603.6(ATP8B1):c.-22-9T>C rs35671095
NM_005603.6(ATP8B1):c.-48C>T rs150844949
NM_005603.6(ATP8B1):c.1072G>A (p.Gly358Ser) rs193204986
NM_005603.6(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917
NM_005603.6(ATP8B1):c.150A>G (p.Glu50=) rs137973298
NM_005603.6(ATP8B1):c.1729A>G (p.Ile577Val) rs3745078
NM_005603.6(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153
NM_005603.6(ATP8B1):c.2021T>C (p.Met674Thr) rs35470719
NM_005603.6(ATP8B1):c.234C>G (p.His78Gln) rs3745079
NM_005603.6(ATP8B1):c.2637G>A (p.Leu879=) rs199716374
NM_005603.6(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116
NM_005603.6(ATP8B1):c.2931+14G>A rs34451179
NM_005603.6(ATP8B1):c.2988C>T (p.Pro996=) rs776385207
NM_005603.6(ATP8B1):c.3016-9C>A rs34729241
NM_005603.6(ATP8B1):c.3477C>T (p.Pro1159=) rs117182648
NM_005603.6(ATP8B1):c.3531+8G>T rs34027711
NM_005603.6(ATP8B1):c.3696G>A (p.Ser1232=) rs754912569
NM_005603.6(ATP8B1):c.3744C>A (p.Thr1248=) rs2271771
NM_018849.3(ABCB4):c.-1G>A rs45449704
NM_018849.3(ABCB4):c.-6-4T>C rs8187785
NM_018849.3(ABCB4):c.147C>T (p.Ser49=) rs8187789
NM_018849.3(ABCB4):c.1893+6T>C rs8187798
NM_018849.3(ABCB4):c.1938T>C (p.Asp646=) rs553616378
NM_018849.3(ABCB4):c.3037A>C (p.Arg1013=) rs2230029
NM_018849.3(ABCB4):c.3306C>T (p.Leu1102=) rs561612231
NM_018849.3(ABCB4):c.459T>C (p.Phe153=) rs2230027
NM_018849.3(ABCB4):c.696C>T (p.Ala232=) rs8187791
NM_018849.3(ABCB4):c.711A>T (p.Ile237=) rs2109505

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