ClinVar Miner

Variants in gene TTC21B 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
1203 200 0 40 50 0 4 92

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 15 0 0 0
likely pathogenic 15 0 3 1 0
uncertain significance 0 3 0 47 5
likely benign 0 1 47 0 25
benign 0 0 5 25 0

All variants with conflicting interpretations #

Total variants: 92
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429 0.95419
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273 0.62402
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 0.01854
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01493
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01326
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01209
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=) rs73018799 0.01002
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136 0.00617
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00585
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00517
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 0.00279
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 0.00121
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374 0.00105
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.3850G>C (p.Asp1284His) rs139537546 0.00063
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) rs539769126 0.00060
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 0.00038
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.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.1637C>T (p.Ser546Phe) rs140323384 0.00010
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.2895A>T (p.Lys965Asn) rs146201603 0.00009
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00007
NM_024753.5(TTC21B):c.970T>G (p.Ser324Ala) rs762885961 0.00007
NM_024753.5(TTC21B):c.2356G>A (p.Gly786Arg) rs202087501 0.00005
NM_024753.5(TTC21B):c.2378A>G (p.Tyr793Cys) rs763158250 0.00005
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr) rs190101048 0.00005
NM_024753.5(TTC21B):c.2913dup (p.Val972fs) rs867205119 0.00005
NM_024753.5(TTC21B):c.3707A>G (p.Tyr1236Cys) rs144130537 0.00005
NM_024753.5(TTC21B):c.3892A>G (p.Thr1298Ala) rs142512424 0.00005
NM_024753.5(TTC21B):c.863T>C (p.Phe288Ser) rs761856542 0.00005
NM_024753.5(TTC21B):c.172C>T (p.Arg58Ter) rs771232897 0.00004
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.2972G>A (p.Arg991His) rs141708554 0.00003
NM_024753.5(TTC21B):c.3264-3C>G rs189122492 0.00003
NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu) rs776138424 0.00002
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val) rs766811699 0.00002
NM_024753.5(TTC21B):c.2858C>T (p.Ala953Val) rs775868164 0.00002
NM_024753.5(TTC21B):c.3130C>T (p.Arg1044Ter) rs202239983 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.2449G>T (p.Ala817Ser) rs376354424 0.00001
NM_024753.5(TTC21B):c.256A>C (p.Asn86His) rs773555238 0.00001
NM_024753.5(TTC21B):c.3144A>G (p.Lys1048=) rs762837601 0.00001
NM_024753.5(TTC21B):c.338A>G (p.His113Arg) rs146865517 0.00001
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro) rs759086770 0.00001
NM_024753.5(TTC21B):c.1088-1G>A rs753627675
NM_024753.5(TTC21B):c.114C>G (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.1320del (p.Phe440fs) rs775836730
NM_024753.5(TTC21B):c.1479_1482del (p.Thr494fs) rs1686551975
NM_024753.5(TTC21B):c.1517-5A>T rs769174542
NM_024753.5(TTC21B):c.21+2TGAGCGGG[5] rs59477041
NM_024753.5(TTC21B):c.21+9_21+10insGAGCGGGC rs141509830
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.3264-13T>G rs754946168
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.3909A>G (p.Arg1303=) rs1305905662
NM_024753.5(TTC21B):c.431del rs2468244727
NM_024753.5(TTC21B):c.553-13del rs749999474

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