ClinVar Miner

Variants in gene combination RTEL1, RTEL1-TNFRSF6B 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
4346 251 0 47 35 0 11 88

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 20 7 0 0
likely pathogenic 20 0 8 0 0
uncertain significance 7 8 0 33 2
likely benign 0 0 33 0 27
benign 0 0 2 27 0

All variants with conflicting interpretations #

Total variants: 88
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001283009.2(RTEL1):c.978G>A (p.Glu326=) rs41310197 0.02816
NM_001283009.2(RTEL1):c.2785G>A (p.Ala929Thr) rs61736615 0.02592
NM_001283009.2(RTEL1):c.3101C>A (p.Pro1034His) rs115610405 0.01560
NM_001283009.2(RTEL1):c.2051G>A (p.Arg684Gln) rs35640778 0.01190
NM_001283009.2(RTEL1):c.1192-9del rs200008996 0.01145
NM_001283009.2(RTEL1):c.2546G>A (p.Gly849Asp) rs190887884 0.01112
NM_001283009.2(RTEL1):c.936G>A (p.Leu312=) rs41302954 0.00940
NM_001283009.2(RTEL1):c.2852-16G>A rs143229960 0.00649
NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His) rs115423936 0.00531
NM_001283009.2(RTEL1):c.1548C>T (p.Val516=) rs116057134 0.00406
NM_001283009.2(RTEL1):c.1017C>T (p.Ser339=) rs35877957 0.00353
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=) rs116900568 0.00332
NM_001283009.2(RTEL1):c.396-37C>T rs41297642 0.00322
NM_001283009.2(RTEL1):c.3056A>G (p.Gln1019Arg) rs116053476 0.00305
NM_001283009.2(RTEL1):c.301+7C>T rs200648296 0.00276
NM_001283009.2(RTEL1):c.3823-5C>G rs141522376 0.00252
NM_001283009.2(RTEL1):c.3693G>A (p.Thr1231=) rs181080831 0.00226
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=) rs41306796 0.00184
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578 0.00174
NM_001283009.2(RTEL1):c.3175G>A (p.Ala1059Thr) rs115303435 0.00112
NM_001283009.2(RTEL1):c.959T>C (p.Met320Thr) rs143550996 0.00108
NM_001283009.2(RTEL1):c.2810C>T (p.Pro937Leu) rs140986557 0.00096
NM_001283009.2(RTEL1):c.3049G>A (p.Asp1017Asn) rs61736617 0.00096
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=) rs12625047 0.00086
NM_001283009.2(RTEL1):c.2824G>A (p.Asp942Asn) rs116247954 0.00062
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile) rs199834369 0.00053
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met) rs77086616 0.00044
NM_001283009.2(RTEL1):c.1189C>G (p.Gln397Glu) rs150285674 0.00043
NM_001283009.2(RTEL1):c.1482-7C>T rs189271525 0.00042
NM_001283009.2(RTEL1):c.1018G>A (p.Gly340Ser) rs145845927 0.00030
NM_001283009.2(RTEL1):c.2146G>A (p.Ala716Thr) rs200003693 0.00030
NM_001283009.2(RTEL1):c.2965C>T (p.Arg989Trp) rs139221232 0.00030
NM_001283009.2(RTEL1):c.1581C>T (p.Ser527=) rs78258482 0.00023
NM_001283009.2(RTEL1):c.538+3A>G rs201706459 0.00023
NM_001283009.2(RTEL1):c.2678C>T (p.Thr893Met) rs141717966 0.00021
NM_001283009.2(RTEL1):c.2352C>T (p.Phe784=) rs140564753 0.00020
NM_001283009.2(RTEL1):c.3203G>A (p.Arg1068His) rs137914057 0.00019
NM_001283009.2(RTEL1):c.1349-9G>A rs772899702 0.00017
NM_001283009.2(RTEL1):c.2612C>T (p.Pro871Leu) rs144002969 0.00017
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His) rs373210484 0.00015
NM_001283009.2(RTEL1):c.860C>T (p.Thr287Ile) rs561054389 0.00015
NM_001283009.2(RTEL1):c.3407C>G (p.Thr1136Ser) rs150686112 0.00011
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter) rs373740199 0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001283009.2(RTEL1):c.2232C>T (p.Asp744=) rs146666432 0.00008
NM_001283009.2(RTEL1):c.1395C>T (p.His465=) rs376423914 0.00007
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg) rs537754916 0.00007
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg) rs545613984 0.00007
NM_001283009.2(RTEL1):c.3110-2A>T rs377461417 0.00006
NM_001283009.2(RTEL1):c.3109+5C>T rs372267276 0.00005
NM_001283009.2(RTEL1):c.2957G>A (p.Arg986Gln) rs146221660 0.00004
NM_001283009.2(RTEL1):c.396-26C>T rs80224512 0.00004
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001283009.2(RTEL1):c.3075C>T (p.Gly1025=) rs766455566 0.00003
NM_001283009.2(RTEL1):c.396-27T>C rs774523585 0.00003
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037 0.00002
NM_001283009.2(RTEL1):c.1037+9C>T rs373823132 0.00001
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile) rs370343781 0.00001
NM_001283009.2(RTEL1):c.1993G>A (p.Glu665Lys) rs768397005 0.00001
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter) rs961593162 0.00001
NM_001283009.2(RTEL1):c.3087G>A (p.Leu1029=) rs753147923 0.00001
NM_001283009.2(RTEL1):c.458_459del (p.Gln153fs) rs773025155 0.00001
NM_001283009.2(RTEL1):c.102+2T>C rs1555899111
NM_001283009.2(RTEL1):c.1135+1G>A rs1555903332
NM_001283009.2(RTEL1):c.178C>T (p.Arg60Ter) rs1457184127
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.2310AGA[1] (p.Glu771del) rs558133631
NM_001283009.2(RTEL1):c.2401C>T (p.Gln801Ter) rs2517141332
NM_001283009.2(RTEL1):c.2802T>A (p.Cys934Ter) rs1446832873
NM_001283009.2(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_001283009.2(RTEL1):c.2869C>A (p.Arg957=) rs398123018
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.2898G>A (p.Glu966=) rs115464632
NM_001283009.2(RTEL1):c.2993-8_2993-6del rs761735369
NM_001283009.2(RTEL1):c.3110-2A>C rs377461417
NM_001283009.2(RTEL1):c.3343+8G>A rs768036242
NM_001283009.2(RTEL1):c.3381C>T (p.Arg1127=) rs368588082
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs) rs1363658406
NM_001283009.2(RTEL1):c.3730_3731del (p.Cys1244fs) rs1316931773
NM_001283009.2(RTEL1):c.3783C>G (p.Asp1261Glu) rs376313219
NM_001283009.2(RTEL1):c.3823-11T>C rs2090965484
NM_001283009.2(RTEL1):c.396-74A>C rs1555899773
NM_001283009.2(RTEL1):c.649C>T (p.Gln217Ter) rs780546933
NM_001283009.2(RTEL1):c.732G>A (p.Gly244=) rs919917378
NM_001283009.2(RTEL1):c.751G>A (p.Glu251Lys) rs398123019
NM_001283009.2(RTEL1):c.900C>T (p.Ser300=) rs146100165
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001283009.2(RTEL1):c.958+2dup rs869312855

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