ClinVar Miner

Variants in gene TTR with conflicting interpretations

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
88 28 0 18 11 2 6 28

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 affects risk factor
pathogenic 0 9 3 2 2 0 0
likely pathogenic 9 0 3 0 0 0 0
uncertain significance 3 3 0 9 7 1 0
likely benign 2 0 9 0 9 0 1
benign 2 0 7 9 0 0 1
affects 0 0 1 0 0 0 0
risk factor 0 0 0 1 1 0 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NM_000371.3(TTR):c.*21C>A rs12226
NM_000371.3(TTR):c.130C>T (p.Pro44Ser) rs11541790
NM_000371.3(TTR):c.14G>A (p.Arg5His) rs138657343
NM_000371.3(TTR):c.165G>T (p.Lys55Asn)
NM_000371.3(TTR):c.190T>C (p.Phe64Leu) rs138065384
NM_000371.3(TTR):c.238A>G (p.Thr80Ala) rs121918070
NM_000371.3(TTR):c.239C>T (p.Thr80Ile)
NM_000371.3(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.3(TTR):c.262A>T (p.Ile88Leu) rs121918085
NM_000371.3(TTR):c.265T>C (p.Tyr89His) rs121918100
NM_000371.3(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000371.3(TTR):c.336+19G>A rs75517067
NM_000371.3(TTR):c.349G>T (p.Ala117Ser) rs267607161
NM_000371.3(TTR):c.354C>T (p.Asn118=) rs11541797
NM_000371.3(TTR):c.355G>A (p.Asp119Asn) rs76410435
NM_000371.3(TTR):c.360C>T (p.Ser120=) rs150127220
NM_000371.3(TTR):c.371G>A (p.Arg124His) rs121918095
NM_000371.3(TTR):c.372C>G (p.Arg124=) rs780119793
NM_000371.3(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.3(TTR):c.384C>T (p.Ala128=) rs143906738
NM_000371.3(TTR):c.386C>T (p.Ala129Val) rs121918092
NM_000371.3(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000371.3(TTR):c.417G>A (p.Thr139=) rs2276382
NM_000371.3(TTR):c.424_426delGTC (p.Val142del) rs121918096
NM_000371.3(TTR):c.437A>G (p.Lys146Arg) rs536294863
NM_000371.3(TTR):c.68C>T (p.Thr23Met) rs377052919
NM_000371.3(TTR):c.70-7C>T rs587780990
NM_000371.3(TTR):c.88T>C (p.Cys30Arg) rs121918083

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