ClinVar Miner

Variants in gene RTTN 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:
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
967 123 0 49 26 0 3 73

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 2 0 0 0
likely pathogenic 2 0 3 0 0
uncertain significance 0 3 0 25 6
likely benign 0 0 25 0 47
benign 0 0 6 47 0

All variants with conflicting interpretations #

Total variants: 73
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_173630.4(RTTN):c.5282T>C (p.Phe1761Ser) rs4891392 0.79319
NM_173630.4(RTTN):c.376T>G (p.Ser126Ala) rs3911730 0.73528
NM_173630.4(RTTN):c.734A>G (p.Lys245Arg) rs17082206 0.40022
NM_173630.4(RTTN):c.6144A>G (p.Val2048=) rs2304378 0.16509
NM_173630.4(RTTN):c.4940+7G>A rs17082039 0.02895
NM_173630.4(RTTN):c.4748-5A>G rs28495061 0.02113
NM_173630.4(RTTN):c.2856A>G (p.Leu952=) rs35139926 0.02051
NM_173630.4(RTTN):c.2055+7C>T rs117843366 0.01697
NM_173630.4(RTTN):c.4850T>C (p.Met1617Thr) rs35409908 0.01493
NM_173630.4(RTTN):c.2886-9A>G rs75225724 0.01465
NM_173630.4(RTTN):c.1665C>A (p.Asn555Lys) rs34353615 0.01182
NM_173630.4(RTTN):c.1842A>G (p.Glu614=) rs140245773 0.01182
NM_173630.4(RTTN):c.5060C>G (p.Ser1687Cys) rs34717557 0.01180
NM_173630.4(RTTN):c.1008-4G>T rs151203272 0.01176
NM_173630.4(RTTN):c.841+11T>C rs114480216 0.00778
NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr) rs34989098 0.00624
NM_173630.4(RTTN):c.2466A>G (p.Arg822=) rs115470168 0.00564
NM_173630.4(RTTN):c.3581A>G (p.Glu1194Gly) rs34533087 0.00548
NM_173630.4(RTTN):c.183G>A (p.Lys61=) rs34922729 0.00541
NM_173630.4(RTTN):c.5647+16C>T rs114315958 0.00541
NM_173630.4(RTTN):c.6038G>T (p.Cys2013Phe) rs145976466 0.00528
NM_173630.4(RTTN):c.6636T>C (p.Tyr2212=) rs35558429 0.00497
NM_173630.4(RTTN):c.227C>T (p.Pro76Leu) rs114765225 0.00496
NM_173630.4(RTTN):c.4992G>C (p.Leu1664=) rs34041767 0.00492
NM_173630.4(RTTN):c.5991T>C (p.Pro1997=) rs34749812 0.00449
NM_173630.4(RTTN):c.2309+12G>A rs144279235 0.00433
NM_173630.4(RTTN):c.4889G>C (p.Arg1630Thr) rs182595458 0.00389
NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp) rs35374168 0.00275
NM_173630.4(RTTN):c.2990C>T (p.Ala997Val) rs143471549 0.00255
NM_173630.4(RTTN):c.4303-8A>G rs199597732 0.00230
NM_173630.4(RTTN):c.3338G>A (p.Cys1113Tyr) rs117774280 0.00217
NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met) rs62089120 0.00216
NM_173630.4(RTTN):c.5212C>T (p.His1738Tyr) rs35068710 0.00210
NM_173630.4(RTTN):c.5280G>A (p.Pro1760=) rs186543005 0.00198
NM_173630.4(RTTN):c.5883G>A (p.Leu1961=) rs35313369 0.00185
NM_173630.4(RTTN):c.3048G>A (p.Pro1016=) rs149233888 0.00176
NM_173630.4(RTTN):c.2804A>G (p.His935Arg) rs145832674 0.00164
NM_173630.4(RTTN):c.3003C>T (p.Tyr1001=) rs200031043 0.00156
NM_173630.4(RTTN):c.4308A>G (p.Ala1436=) rs200315704 0.00115
NM_173630.4(RTTN):c.805T>C (p.Phe269Leu) rs141156594 0.00096
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile) rs113536228 0.00082
NM_173630.4(RTTN):c.1221A>G (p.Glu407=) rs112327299 0.00081
NM_173630.4(RTTN):c.4615G>A (p.Asp1539Asn) rs201473797 0.00079
NM_173630.4(RTTN):c.4748-7A>G rs141673274 0.00063
NM_173630.4(RTTN):c.2568T>A (p.Ala856=) rs370998068 0.00061
NM_173630.4(RTTN):c.282G>T (p.Arg94=) rs199908033 0.00057
NM_173630.4(RTTN):c.4032+6C>T rs182157946 0.00048
NM_173630.4(RTTN):c.1301A>C (p.Asp434Ala) rs8083708 0.00041
NM_173630.4(RTTN):c.2355T>C (p.Ser785=) rs200600259 0.00029
NM_173630.4(RTTN):c.488-15C>T rs182610959 0.00029
NM_173630.4(RTTN):c.86T>C (p.Ile29Thr) rs201689582 0.00021
NM_173630.4(RTTN):c.494A>C (p.Gln165Pro) rs199536536 0.00019
NM_173630.4(RTTN):c.2670+9A>G rs200758402 0.00016
NM_173630.4(RTTN):c.5055A>G (p.Leu1685=) rs372431222 0.00014
NM_173630.4(RTTN):c.4564+4A>C rs368489465 0.00009
NM_173630.4(RTTN):c.4253T>C (p.Val1418Ala) rs376967382 0.00006
NM_173630.4(RTTN):c.4564+8C>T rs563328673 0.00006
NM_173630.4(RTTN):c.4877C>T (p.Thr1626Met) rs781683199 0.00006
NM_173630.4(RTTN):c.88G>T (p.Glu30Ter) rs200495808 0.00005
NM_173630.4(RTTN):c.1768C>T (p.Leu590=) rs752422245 0.00003
NM_173630.4(RTTN):c.2552C>T (p.Ala851Val) rs374285374 0.00001
NM_173630.4(RTTN):c.6301T>C (p.Cys2101Arg) rs201253231 0.00001
NM_173630.4(RTTN):c.2821G>C (p.Val941Leu)
NM_173630.4(RTTN):c.3321G>A (p.Lys1107=) rs147728279
NM_173630.4(RTTN):c.3714A>G (p.Gln1238=)
NM_173630.4(RTTN):c.376T>A (p.Ser126Thr) rs3911730
NM_173630.4(RTTN):c.3943_3946del (p.Met1315fs) rs1195644432
NM_173630.4(RTTN):c.4295G>A (p.Arg1432His) rs1465962355
NM_173630.4(RTTN):c.4303-24_4303-11del rs531741265
NM_173630.4(RTTN):c.5186-4A>G rs28599773
NM_173630.4(RTTN):c.578+4C>T
NM_173630.4(RTTN):c.6153+4C>T
NM_173630.4(RTTN):c.6417T>C (p.Ala2139=) rs141934309

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.