ClinVar Miner

List of variants in gene TRIOBP studied for autosomal recessive disease

Included ClinVar conditions (1167):
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Gene type:
ClinVar version:
Total variants: 93
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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.5184+1G>A rs575123401 0.00004
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.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.6022C>T (p.Arg2008Trp) rs772305308 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.1195C>T (p.Arg399Ter) rs750078356
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.2758C>T (p.Arg920Ter)
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

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