ClinVar Miner

List of variants in gene TRMU reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_018006.5(TRMU):c.82+48G>A rs2272937 0.37485
NM_018006.5(TRMU):c.1101+111G>C rs8135519 0.28871
NM_018006.5(TRMU):c.82+28G>C rs11090866 0.27943
NM_018006.5(TRMU):c.772+83T>C rs6008770 0.26525
NM_018006.5(TRMU):c.*276G>A rs13585 0.24909
NM_018006.5(TRMU):c.478+45T>G rs6008769 0.19377
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_018006.5(TRMU):c.82+130T>C rs112433524 0.10863
NC_000022.11:g.46335127C>G rs9615953 0.07220
NM_018006.5(TRMU):c.1176G>A (p.Thr392=) rs34591580 0.06826
NM_018006.5(TRMU):c.874-219T>C rs9615958 0.06774
NM_018006.5(TRMU):c.772+217G>A rs12159706 0.06706
NM_018006.5(TRMU):c.82+244A>G rs114880598 0.06438
NM_018006.5(TRMU):c.773-30C>T rs9615956 0.06283
NM_018006.5(TRMU):c.772+143G>A rs6008771 0.05257
NM_018006.5(TRMU):c.873+121C>G rs9615350 0.04323
NC_000022.11:g.46335294T>C rs73889250 0.03633
NM_018006.5(TRMU):c.772+106A>C rs12160381 0.03463
NM_018006.5(TRMU):c.478+235G>A rs12160940 0.03436
NM_018006.5(TRMU):c.82+231C>T rs116832601 0.03433
NM_018006.5(TRMU):c.1019-158C>T rs6008773 0.03390
NM_018006.5(TRMU):c.874-55C>T rs78092973 0.03322
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016 0.03308
NM_018006.5(TRMU):c.*151C>T rs116347546 0.03272
NM_018006.5(TRMU):c.873+244A>G rs2839855 0.03226
NM_018006.5(TRMU):c.552C>T (p.Ala184=) rs35772382 0.03164
NM_018006.5(TRMU):c.772+254T>C rs114058457 0.03150
NM_018006.5(TRMU):c.249-208G>A rs12158624 0.03039
NC_000022.11:g.46335201del rs140074493 0.02993
NM_018006.4(TRMU):c.-178G>A rs114587018 0.02983
NM_018006.5(TRMU):c.10T>G (p.Leu4Val) rs114302881 0.02970
NM_018006.5(TRMU):c.927C>T (p.Arg309=) rs9627420 0.02832
NM_018006.5(TRMU):c.874-113C>T rs80009032 0.02812
NM_018006.4(TRMU):c.-117G>C rs116519615 0.02778
NM_018006.5(TRMU):c.9C>G (p.Ala3=) rs75417986 0.02729
NM_018006.5(TRMU):c.249-19T>A rs57347693 0.02724
NM_018006.5(TRMU):c.355+162C>T rs59818143 0.02355
NM_018006.5(TRMU):c.651+87C>T rs114042113 0.02157
NM_018006.5(TRMU):c.652-216C>T rs142795512 0.01995
NM_018006.5(TRMU):c.652-210C>G rs62226996 0.01949
NM_018006.5(TRMU):c.*8G>C rs55905826 0.01809
NM_018006.5(TRMU):c.248+193A>T rs116556526 0.01626
NM_018006.4(TRMU):c.-128A>G rs141601555 0.01616
NM_018006.5(TRMU):c.442G>A (p.Glu148Lys) rs34012206 0.01506
NM_018006.5(TRMU):c.874-299T>G rs111285746 0.01433
NM_018006.5(TRMU):c.651+47G>A rs115364293 0.01419
NM_018006.5(TRMU):c.479C>T (p.Ala160Val) rs35338668 0.01380
NM_018006.5(TRMU):c.1101+95A>G rs74806921 0.01361
NM_018006.5(TRMU):c.864C>T (p.Asp288=) rs61737827 0.01333
NM_018006.5(TRMU):c.*124G>C rs116303153 0.01300
NM_018006.5(TRMU):c.83-19T>C rs7290233 0.01253
NM_018006.5(TRMU):c.248+47C>G rs115904827 0.01181
NM_018006.5(TRMU):c.*210G>C rs141551983 0.01148
NM_018006.5(TRMU):c.1101+224C>T rs117447747 0.00877
NM_018006.5(TRMU):c.706-24G>A rs78833631 0.00674
NM_018006.5(TRMU):c.355+58C>A rs148120368 0.00658
NM_018006.5(TRMU):c.652-16C>T rs73177076 0.00529
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
NM_018006.5(TRMU):c.249-95G>A rs143693089 0.00405
NC_000022.11:g.46335132C>A rs148817908 0.00387
NM_018006.4(TRMU):c.-87T>C rs184994382 0.00164
NM_018006.5(TRMU):c.900G>T (p.Leu300=) rs113846383 0.00068
NM_018006.5(TRMU):c.75G>T (p.Arg25Ser) rs2272938 0.00065
NM_018006.5(TRMU):c.772+8G>A rs201372242 0.00048
NM_018006.5(TRMU):c.-44G>A rs370964036 0.00021
NM_018006.5(TRMU):c.1106C>T (p.Ala369Val) rs111608902 0.00016
NM_018006.5(TRMU):c.-36C>G rs560661382 0.00013
NM_018006.5(TRMU):c.835G>A (p.Val279Met) rs387907022 0.00011
NM_018006.5(TRMU):c.-19G>C rs886057609 0.00010
NM_018006.5(TRMU):c.430G>A (p.Val144Ile) rs367570778 0.00010
NM_018006.5(TRMU):c.952C>T (p.Pro318Ser) rs150128284 0.00010
NM_018006.5(TRMU):c.479-10T>C rs202070165 0.00009
NM_018006.5(TRMU):c.1081C>T (p.Arg361Cys) rs185988821 0.00008
NM_018006.5(TRMU):c.172T>C (p.Tyr58His) rs138382860 0.00008
NM_018006.5(TRMU):c.1018+9C>T rs373346869 0.00006
NM_018006.5(TRMU):c.40G>A (p.Gly14Ser) rs751248771 0.00006
NM_018006.5(TRMU):c.82+5G>C rs771076163 0.00006
NM_018006.5(TRMU):c.925C>T (p.Arg309Cys) rs764958201 0.00006
NM_018006.5(TRMU):c.1053C>T (p.Thr351=) rs374614222 0.00004
NM_018006.5(TRMU):c.1164G>A (p.Pro388=) rs202047181 0.00004
NM_018006.5(TRMU):c.1193G>A (p.Arg398His) rs139351059 0.00004
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335 0.00004
NM_018006.5(TRMU):c.429C>T (p.His143=) rs746421213 0.00004
NM_018006.5(TRMU):c.873+12G>A rs540183174 0.00004
NM_018006.5(TRMU):c.-15T>C rs764076380 0.00003
NM_018006.5(TRMU):c.1101+5G>A rs1273958469 0.00003
NM_018006.5(TRMU):c.1246G>T (p.Gly416Cys) rs150043707 0.00003
NM_018006.5(TRMU):c.469G>A (p.Val157Ile) rs201755743 0.00003
NM_018006.5(TRMU):c.83-11C>A rs1057523042 0.00003
NM_018006.5(TRMU):c.1062G>A (p.Val354=) rs368415197 0.00002
NM_018006.5(TRMU):c.1102-3C>G rs753039116 0.00002
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys) rs773023974 0.00002
NM_018006.5(TRMU):c.272A>G (p.Lys91Arg) rs138044544 0.00002
NM_018006.5(TRMU):c.-25G>A rs995131564 0.00001
NM_018006.5(TRMU):c.-26A>C rs898267377 0.00001
NM_018006.5(TRMU):c.118G>C (p.Asp40His) rs863224240 0.00001
NM_018006.5(TRMU):c.2T>G (p.Met1Arg) rs118203992 0.00001
NM_018006.5(TRMU):c.538G>T (p.Val180Phe) rs863224239 0.00001
NM_018006.5(TRMU):c.576G>C (p.Leu192=) rs1319509730 0.00001
NM_018006.5(TRMU):c.673G>A (p.Gly225Arg) rs1253028633 0.00001
NM_018006.5(TRMU):c.718C>T (p.Arg240Ter) rs367683258 0.00001
NM_018006.5(TRMU):c.772+11G>C rs1262602634 0.00001
NM_018006.5(TRMU):c.942G>A (p.Ala314=) rs767891094 0.00001
NM_018006.5(TRMU):c.*43T>C rs113302712
NM_018006.5(TRMU):c.*43T>G rs113302712
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.1093A>C (p.Thr365Pro) rs138586787
NM_018006.5(TRMU):c.1102-154CAG[5] rs112946940
NM_018006.5(TRMU):c.1125C>A (p.Asp375Glu) rs779022860
NM_018006.5(TRMU):c.215C>T (p.Ser72Phe) rs1085307928
NM_018006.5(TRMU):c.246C>G (p.Phe82Leu) rs1057524822
NM_018006.5(TRMU):c.248+19A>C rs1057521579
NM_018006.5(TRMU):c.248+54G>C rs115798137
NM_018006.5(TRMU):c.249-2dup rs2147868532
NM_018006.5(TRMU):c.249-48del rs367879331
NM_018006.5(TRMU):c.249-48dup rs367879331
NM_018006.5(TRMU):c.249-88_249-87insCT rs57792309
NM_018006.5(TRMU):c.2T>C (p.Met1Thr) rs118203992
NM_018006.5(TRMU):c.304A>G (p.Asn102Asp) rs1064794755
NM_018006.5(TRMU):c.356-162G>C rs6008768
NM_018006.5(TRMU):c.356-225_356-222del rs145106026
NM_018006.5(TRMU):c.479-184dup rs879199415
NM_018006.5(TRMU):c.479-296del rs58315215
NM_018006.5(TRMU):c.479-296dup rs58315215
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del) rs762710723
NM_018006.5(TRMU):c.567C>G (p.Ile189Met) rs192537315
NM_018006.5(TRMU):c.577G>T (p.Gly193Trp)
NM_018006.5(TRMU):c.651+59C>A rs79354880
NM_018006.5(TRMU):c.660C>T (p.Gly220=)
NM_018006.5(TRMU):c.768T>C (p.His256=) rs1555899299
NM_018006.5(TRMU):c.773-12_773-9del rs863224241
NM_018006.5(TRMU):c.773-318G>A rs6008772
NM_018006.5(TRMU):c.82+26C>G rs569915020
NM_018006.5(TRMU):c.82+27dup rs142322338
NM_018006.5(TRMU):c.874-129C>T rs75292658
NM_018006.5(TRMU):c.941C>T (p.Ala314Val) rs760149424
NM_018006.5(TRMU):c.954dup (p.Ala319fs) rs863224242

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