ClinVar Miner

Variants in gene TTC21B 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
1050 112 0 34 36 0 3 71

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 9 0 0 0
likely pathogenic 9 0 3 0 0
uncertain significance 0 3 0 35 2
likely benign 0 0 35 0 25
benign 0 0 2 25 0

All variants with conflicting interpretations #

Total variants: 71
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429 0.95088
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273 0.61903
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044 0.34586
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649 0.01776
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=) rs73018799 0.01072
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136 0.00617
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538 0.00355
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507 0.00235
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly) rs149325238 0.00190
NM_024753.5(TTC21B):c.262+16G>A rs192525886 0.00179
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265 0.00161
NM_024753.5(TTC21B):c.1867T>C (p.Leu623=) rs140107312 0.00129
NM_024753.5(TTC21B):c.2161A>C (p.Asn721His) rs146637219 0.00124
NM_024753.5(TTC21B):c.511G>A (p.Gly171Arg) rs199821354 0.00124
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374 0.00107
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) rs146320075 0.00063
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu) rs140384742 0.00054
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser) rs141240501 0.00048
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802 0.00041
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser) rs148222901 0.00041
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) rs151227843 0.00036
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu) rs34925776 0.00034
NM_024753.5(TTC21B):c.960C>G (p.Asn320Lys) rs148866170 0.00025
NM_024753.5(TTC21B):c.1272C>A (p.Asp424Glu) rs533077805 0.00022
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) rs183367929 0.00019
NM_024753.5(TTC21B):c.3131G>A (p.Arg1044Gln) rs140908725 0.00016
NM_024753.5(TTC21B):c.173G>A (p.Arg58Gln) rs376163622 0.00015
NM_024753.5(TTC21B):c.549T>C (p.Gly183=) rs141664029 0.00014
NM_024753.5(TTC21B):c.3415G>A (p.Val1139Ile) rs201162086 0.00012
NM_024753.5(TTC21B):c.3631G>A (p.Ala1211Thr) rs767696555 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_024753.5(TTC21B):c.1883G>A (p.Arg628His) rs139653847 0.00009
NM_024753.5(TTC21B):c.2500C>T (p.Gln834Ter) rs79746977 0.00009
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala) rs762885961 0.00007
NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys) rs763158250 0.00006
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00006
NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg) rs202087501 0.00005
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn) rs377209277 0.00004
NM_024753.5(TTC21B):c.913A>G (p.Ile305Val) rs140899101 0.00004
NM_024753.5(TTC21B):c.2168G>A (p.Arg723Gln) rs151309609 0.00003
NM_024753.5(TTC21B):c.235T>C (p.Tyr79His) rs752147287 0.00003
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln) rs747246700 0.00003
NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu) rs776138424 0.00002
NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter) rs369159801 0.00002
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_024753.5(TTC21B):c.2972G>A (p.Arg991His) rs141708554 0.00002
NM_024753.5(TTC21B):c.131C>A (p.Ala44Asp) rs1553516687 0.00001
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) rs1183062277 0.00001
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) rs779134983 0.00001
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) rs539769126 0.00001
NM_024753.5(TTC21B):c.338A>G (p.His113Arg) rs146865517 0.00001
NM_024753.5(TTC21B):c.114C>G (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val) rs766811699
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro) rs759086770
NM_024753.5(TTC21B):c.553-13del rs749999474

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