ClinVar Miner

Variants in gene RTTN with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 47
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.3338G>A (p.Cys1113Tyr) rs117774280 0.00217
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.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.1221A>G (p.Glu407=) rs112327299 0.00081
NM_173630.4(RTTN):c.4748-7A>G rs141673274 0.00063
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.488-15C>T rs182610959 0.00029
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.3321G>A (p.Lys1107=) rs147728279
NM_173630.4(RTTN):c.4303-24_4303-11del rs531741265
NM_173630.4(RTTN):c.5186-4A>G rs28599773
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.