ClinVar Miner

List of variants in gene TRIOBP studied for autosomal recessive nonsyndromic hearing loss 28

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001039141.3(TRIOBP):c.6324+46C>G rs5756810 0.96820
NM_001039141.3(TRIOBP):c.4129T>C (p.Trp1377Arg) rs8140958 0.96815
NM_001039141.3(TRIOBP):c.3899A>G (p.His1300Arg) rs739138 0.58971
NM_001039141.3(TRIOBP):c.4063-21A>C rs13054052 0.54357
NM_001039141.3(TRIOBP):c.650G>A (p.Ser217Asn) rs12628603 0.54098
NM_001039141.3(TRIOBP):c.3975G>A (p.Gln1325=) rs7284476 0.35508
NM_001039141.3(TRIOBP):c.3885C>T (p.Ser1295=) rs739137 0.35439
NM_001039141.3(TRIOBP):c.2589C>A (p.Asn863Lys) rs9610841 0.35396
NM_001039141.3(TRIOBP):c.3559T>C (p.Phe1187Leu) rs5756795 0.35350
NM_001039141.3(TRIOBP):c.-14C>G rs12484441 0.18268
NM_001039141.3(TRIOBP):c.2477C>T (p.Ser826Leu) rs41296243 0.01649
NM_001039141.3(TRIOBP):c.3089C>G (p.Pro1030Arg) rs193043234 0.00922
NM_001039141.3(TRIOBP):c.*3-4T>C rs145222008 0.00848
NM_001039141.3(TRIOBP):c.504C>A (p.Asp168Glu) rs116448422 0.00567
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala) rs199646135 0.00379
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673 0.00258
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624 0.00238
NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu) rs186620158 0.00221
NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=) rs375013523 0.00137
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235 0.00119
NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser) rs201794404 0.00115
NM_001039141.3(TRIOBP):c.4792C>G (p.Pro1598Ala) rs201730395 0.00103
NM_001039141.3(TRIOBP):c.5705A>C (p.Lys1902Thr) rs138804394 0.00071
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) rs199794705 0.00069
NM_001039141.3(TRIOBP):c.6632A>T (p.Gln2211Leu) rs200313246 0.00067
NM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=) rs139074745 0.00058
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_001039141.3(TRIOBP):c.3662G>A (p.Arg1221Gln) rs200559738 0.00037
NM_001039141.3(TRIOBP):c.709C>T (p.Arg237Trp) rs144995033 0.00037
NM_001039141.3(TRIOBP):c.3942G>C (p.Glu1314Asp) rs529894952 0.00036
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032 0.00036
NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg) rs372134073 0.00023
NM_001039141.3(TRIOBP):c.1933C>T (p.Gln645Ter) rs377748152 0.00016
NM_001039141.3(TRIOBP):c.4932C>T (p.Pro1644=) rs192500421 0.00016
NM_001039141.3(TRIOBP):c.964G>T (p.Ala322Ser) rs201693690 0.00014
NM_001039141.3(TRIOBP):c.6515G>A (p.Arg2172Gln) rs200528850 0.00013
NM_001039141.3(TRIOBP):c.4910C>G (p.Thr1637Ser) rs374217208 0.00012
NM_001039141.3(TRIOBP):c.2555A>T (p.Asp852Val) rs778331588 0.00011
NM_001039141.3(TRIOBP):c.1039C>T (p.Arg347Ter) rs118204026 0.00010
NM_001039141.3(TRIOBP):c.5688-13G>C rs200079756 0.00009
NM_001039141.3(TRIOBP):c.3073C>T (p.Arg1025Ter) rs776962899 0.00006
NM_001039141.3(TRIOBP):c.154G>A (p.Asp52Asn) rs147691840 0.00005
NM_001039141.3(TRIOBP):c.6860G>A (p.Arg2287His) rs370737996 0.00005
NM_001039141.3(TRIOBP):c.1195C>G (p.Arg399Gly) rs750078356 0.00003
NM_001039141.3(TRIOBP):c.3349C>T (p.Arg1117Ter) rs118204031 0.00003
NM_001039141.3(TRIOBP):c.6022C>T (p.Arg2008Trp) rs772305308 0.00003
NM_001039141.3(TRIOBP):c.2362C>T (p.Arg788Ter) rs118204029 0.00002
NM_001039141.3(TRIOBP):c.6548G>A (p.Gly2183Asp) rs780554525 0.00002
NM_001039141.3(TRIOBP):c.2018G>A (p.Arg673Lys) rs370666072 0.00001
NM_001039141.3(TRIOBP):c.2176C>T (p.Arg726Ter) rs375857763 0.00001
NM_001039141.3(TRIOBP):c.3202C>T (p.Arg1068Ter) rs118204030 0.00001
NM_001039141.3(TRIOBP):c.7073C>T (p.Ser2358Leu) rs750498327 0.00001
NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del) rs55745992
NM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter) rs1569034190
NM_001039141.3(TRIOBP):c.1342C>T (p.Arg448Ter) rs773152243
NM_001039141.3(TRIOBP):c.1447C>T (p.Gln483Ter) rs1060499809
NM_001039141.3(TRIOBP):c.1478G>A (p.Ser493Asn) rs4821700
NM_001039141.3(TRIOBP):c.1685C>G (p.Ser562Cys) rs747588173
NM_001039141.3(TRIOBP):c.1741C>T (p.Gln581Ter) rs118204027
NM_001039141.3(TRIOBP):c.1783C>T (p.Arg595Ter) rs371412957
NM_001039141.3(TRIOBP):c.1855del (p.Ala619fs) rs2145833313
NM_001039141.3(TRIOBP):c.1861C>T (p.Arg621Ter)
NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del) rs1569041188
NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg) rs1555896093
NM_001039141.3(TRIOBP):c.2293C>A (p.Gln765Lys)
NM_001039141.3(TRIOBP):c.2516C>G (p.Thr839Ser)
NM_001039141.3(TRIOBP):c.2581C>T (p.Arg861Ter)
NM_001039141.3(TRIOBP):c.2695C>G (p.Arg899Gly)
NM_001039141.3(TRIOBP):c.3055G>A (p.Gly1019Arg) rs549095193
NM_001039141.3(TRIOBP):c.3145_3146del (p.Glu1048_Ser1049insTer) rs1555896285
NM_001039141.3(TRIOBP):c.3202_3203del (p.Asp1069fs) rs1601632909
NM_001039141.3(TRIOBP):c.3214C>G (p.Arg1072Gly) rs752019502
NM_001039141.3(TRIOBP):c.3214dup (p.Arg1072fs) rs1485334519
NM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs) rs768625959
NM_001039141.3(TRIOBP):c.3460_3461del (p.Leu1154fs) rs771696726
NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter) rs1569042693
NM_001039141.3(TRIOBP):c.3634_3646del (p.Leu1212fs) rs1569042782
NM_001039141.3(TRIOBP):c.3672_3673del (p.Arg1225fs) rs2145835560
NM_001039141.3(TRIOBP):c.4280G>A (p.Trp1427Ter) rs1329127252
NM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter) rs1569046250
NM_001039141.3(TRIOBP):c.4483G>T (p.Glu1495Ter) rs1924587856
NM_001039141.3(TRIOBP):c.4538C>T (p.Thr1513Met)
NM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro) rs773013563
NM_001039141.3(TRIOBP):c.5849C>T (p.Pro1950Leu)
NM_001039141.3(TRIOBP):c.6472+13_6472+14insT rs541980281
NM_001039141.3(TRIOBP):c.6472+14_6472+15insC rs546389039
NM_001039141.3(TRIOBP):c.6472+19dup rs3833924
NM_001039141.3(TRIOBP):c.706C>T (p.His236Tyr)
NM_001039141.3(TRIOBP):c.826C>T (p.Pro276Ser) rs1569040134
NM_001039141.3(TRIOBP):c.889C>T (p.Gln297Ter) rs118204028

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.