ClinVar Miner

Variants in gene TCIRG1 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 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
1415 108 0 35 30 0 7 67

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 24 2 0 0
likely pathogenic 24 0 7 0 0
uncertain significance 2 7 0 30 3
likely benign 0 0 30 0 11
benign 0 0 3 11 0

All variants with conflicting interpretations #

Total variants: 67
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr) rs75596506 0.00755
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00601
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=) rs141859450 0.00162
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu) rs34227834 0.00144
NM_006019.4(TCIRG1):c.528C>A (p.Pro176=) rs538805960 0.00135
NM_006019.4(TCIRG1):c.412C>T (p.Pro138Ser) rs35354504 0.00118
NM_006019.4(TCIRG1):c.813C>T (p.Leu271=) rs377108710 0.00099
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile) rs140191063 0.00095
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=) rs138049763 0.00093
NM_006019.4(TCIRG1):c.197-5C>T rs183885218 0.00088
NM_006019.4(TCIRG1):c.2397C>T (p.His799=) rs141356870 0.00053
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu) rs199632510 0.00046
NM_006019.4(TCIRG1):c.1096C>T (p.Arg366Cys) rs148619884 0.00035
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=) rs145718040 0.00029
NM_006019.4(TCIRG1):c.2193C>T (p.Thr731=) rs141601593 0.00025
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=) rs150788130 0.00022
NM_006019.4(TCIRG1):c.1615G>A (p.Val539Ile) rs142539969 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_006019.4(TCIRG1):c.1227C>T (p.His409=) rs145080707 0.00017
NM_006019.4(TCIRG1):c.1269G>A (p.Ala423=) rs147119709 0.00010
NM_006019.4(TCIRG1):c.2119-10C>T rs377606178 0.00009
NM_006019.4(TCIRG1):c.631-15_642dup rs745521166 0.00008
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp) rs543099977 0.00008
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=) rs151180675 0.00007
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg) rs137853150 0.00007
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=) rs138527421 0.00007
NM_006019.4(TCIRG1):c.1020G>A (p.Ser340=) rs144158792 0.00006
NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu) rs137853151 0.00006
NM_006019.4(TCIRG1):c.307C>T (p.Arg103Cys) rs771198568 0.00006
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=) rs746159308 0.00005
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met) rs763119311 0.00004
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006019.4(TCIRG1):c.1555-2A>C rs758977199 0.00002
NM_006019.4(TCIRG1):c.1710G>A (p.Thr570=) rs199696448 0.00002
NM_006019.4(TCIRG1):c.-5+1G>T rs917505107 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006019.4(TCIRG1):c.1583G>C (p.Ser528Thr) rs555362865 0.00001
NM_006019.4(TCIRG1):c.2066G>A (p.Trp689Ter) rs1590817956 0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter) rs1338631330 0.00001
NM_006019.4(TCIRG1):c.60G>A (p.Ala20=) rs111424326 0.00001
NM_006019.4(TCIRG1):c.979C>T (p.Arg327Ter) rs749361897 0.00001
NM_006019.4(TCIRG1):c.117+4A>C rs751881962
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg)
NM_006019.4(TCIRG1):c.1305+2T>C rs1554997818
NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=) rs534950651
NM_006019.4(TCIRG1):c.1684C>T (p.Gln562Ter) rs1855655612
NM_006019.4(TCIRG1):c.1755G>T (p.Val585=) rs1554999033
NM_006019.4(TCIRG1):c.1836C>T (p.Asn612=) rs886042823
NM_006019.4(TCIRG1):c.1891del (p.Val631fs) rs1300297240
NM_006019.4(TCIRG1):c.196+1G>T rs2134432498
NM_006019.4(TCIRG1):c.2161_2163del (p.Ile721del) rs780311417
NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs) rs1565164499
NM_006019.4(TCIRG1):c.2376_2379del (p.Glu792fs)
NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter) rs1555000308
NM_006019.4(TCIRG1):c.2415-2A>G rs1555000376
NM_006019.4(TCIRG1):c.242del (p.Pro81fs) rs1208311085
NM_006019.4(TCIRG1):c.418-21A>G rs1855249165
NM_006019.4(TCIRG1):c.480dup (p.Pro161fs) rs1554995341
NM_006019.4(TCIRG1):c.702del (p.Ile235fs)
NM_006019.4(TCIRG1):c.807+8_807+31dup rs1554995901
NM_006019.4(TCIRG1):c.971dup (p.Cys324fs) rs1565156743

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