ClinVar Miner

List of variants in gene TK2 studied for Mitochondrial DNA depletion syndrome, myopathic form

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Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_004614.5(TK2):c.-38A>G rs3743716 0.25659
NM_004614.5(TK2):c.619-53A>G rs2241619 0.13547
NM_004614.5(TK2):c.*2221T>C rs3743712 0.13149
NM_004614.5(TK2):c.*765T>C rs880530 0.13122
NM_004614.5(TK2):c.700-13G>A rs16956600 0.11082
NM_004614.5(TK2):c.*2914C>T rs3743711 0.06117
NM_004614.5(TK2):c.156+15T>C rs80083556 0.06072
NM_004614.5(TK2):c.*3786C>T rs74451221 0.04842
NM_004614.5(TK2):c.*2419C>T rs74372298 0.02586
NM_004614.5(TK2):c.*2298C>T rs139593959 0.00689
NM_004614.5(TK2):c.449+14A>C rs144627957 0.00674
NM_004614.5(TK2):c.231+10C>T rs187517309 0.00486
NM_004614.5(TK2):c.*760T>G rs149832105 0.00462
NM_004614.5(TK2):c.*2450A>G rs35138698 0.00395
NM_004614.5(TK2):c.*1959G>A rs145016391 0.00313
NM_004614.5(TK2):c.*1333G>T rs187682220 0.00192
NM_004614.5(TK2):c.*1740T>C rs548520268 0.00137
NM_004614.4(TK2):c.-216G>A rs190131543 0.00132
NM_004614.5(TK2):c.157-12G>A rs117229729 0.00128
NM_004614.5(TK2):c.*485C>G rs183596247 0.00065
NM_004614.5(TK2):c.*451G>A rs369868888 0.00060
NM_004614.5(TK2):c.*2375G>A rs567482803 0.00055
NM_004614.5(TK2):c.576G>A (p.Arg192=) rs146963943 0.00055
NM_004614.5(TK2):c.*595G>A rs886052209 0.00046
NM_004614.5(TK2):c.*729A>G rs886160476 0.00042
NM_004614.5(TK2):c.*2121C>T rs10454065 0.00041
NM_004614.5(TK2):c.*833T>G rs373278953 0.00039
NM_004614.5(TK2):c.*3193G>A rs768065808 0.00038
NM_004614.5(TK2):c.*1443C>A rs577231164 0.00035
NM_004614.5(TK2):c.*1681A>G rs538743722 0.00033
NM_004614.5(TK2):c.*3255A>G rs774804296 0.00026
NM_004614.5(TK2):c.*3763G>T rs549738791 0.00021
NM_004614.5(TK2):c.*2773C>G rs886052194 0.00016
NM_004614.5(TK2):c.*2902C>T rs532588163 0.00016
NM_004614.5(TK2):c.361C>A (p.His121Asn) rs137854429 0.00016
NM_004614.5(TK2):c.680C>T (p.Pro227Leu) rs754140768 0.00015
NM_004614.5(TK2):c.*1292G>A rs561996737 0.00014
NM_004614.5(TK2):c.*327G>A rs575041315 0.00014
NM_004614.5(TK2):c.323C>T (p.Thr108Met) rs137854431 0.00013
NM_004614.5(TK2):c.*1212C>T rs745307045 0.00011
NM_004614.5(TK2):c.388C>T (p.Arg130Trp) rs281865493 0.00008
NM_004614.5(TK2):c.620A>T (p.Glu207Val) rs141225776 0.00008
NM_004614.5(TK2):c.*2637G>A rs530570863 0.00006
NM_004614.5(TK2):c.*342C>A rs544189950 0.00006
NM_004614.4(TK2):c.-70T>A rs538827481 0.00005
NM_004614.5(TK2):c.*1029T>A rs948674132 0.00005
NM_004614.5(TK2):c.763A>G (p.Ile255Val) rs144419486 0.00005
NM_004614.5(TK2):c.*1618C>A rs886052200 0.00004
NM_004614.5(TK2):c.*444G>T rs775590447 0.00004
NM_004614.5(TK2):c.*1597G>A rs1043059553 0.00003
NM_004614.5(TK2):c.*921G>A rs886052205 0.00003
NM_004614.5(TK2):c.414C>T (p.Ser138=) rs773566302 0.00003
NM_004614.5(TK2):c.*1472A>T rs886052202 0.00002
NM_004614.5(TK2):c.*15A>G rs756911935 0.00002
NM_004614.5(TK2):c.*2146G>A rs963895395 0.00002
NM_004614.5(TK2):c.*3285G>A rs1169766872 0.00002
NM_004614.5(TK2):c.300C>T (p.His100=) rs749383225 0.00002
NM_004614.5(TK2):c.441del (p.Tyr148fs) rs768548319 0.00002
NM_004614.5(TK2):c.519C>T (p.Asp173=) rs143378852 0.00002
NM_004614.5(TK2):c.*1403A>G rs886052204 0.00001
NM_004614.5(TK2):c.*1455C>G rs886052203 0.00001
NM_004614.5(TK2):c.*1682T>G rs886052199 0.00001
NM_004614.5(TK2):c.*1986G>C rs1435674483 0.00001
NM_004614.5(TK2):c.*200G>T rs926935953 0.00001
NM_004614.5(TK2):c.*2433A>G rs964325376 0.00001
NM_004614.5(TK2):c.*2985G>A rs1185518504 0.00001
NM_004614.5(TK2):c.*3218A>C rs1032599030 0.00001
NM_004614.5(TK2):c.*3331C>T rs138127133 0.00001
NM_004614.5(TK2):c.*3368G>T rs1474245616 0.00001
NM_004614.5(TK2):c.*773C>T rs975262215 0.00001
NM_004614.5(TK2):c.191C>T (p.Thr64Met) rs281865487 0.00001
NM_004614.5(TK2):c.268C>T (p.Arg90Cys) rs281865489 0.00001
NM_004614.5(TK2):c.310C>T (p.Arg104Cys) rs1194187379 0.00001
NM_004614.5(TK2):c.338T>A (p.Val113Glu) rs746707855 0.00001
NM_004614.5(TK2):c.473A>G (p.Tyr158Cys) rs553354595 0.00001
NM_004614.5(TK2):c.497A>T (p.Asp166Val) rs921593414 0.00001
NM_004614.5(TK2):c.659T>C (p.Leu220Pro) rs1168827071 0.00001
NM_004614.4:c.-270+2561delins;7287-7335inv
NM_004614.5(TK2):c.*1044C>A rs879622108
NM_004614.5(TK2):c.*1463T>G rs1964420428
NM_004614.5(TK2):c.*1671G>C rs1964415276
NM_004614.5(TK2):c.*1738C>T rs886052198
NM_004614.5(TK2):c.*223G>A rs904749580
NM_004614.5(TK2):c.*2540G>T rs574199934
NM_004614.5(TK2):c.*2944G>T rs1280782133
NM_004614.5(TK2):c.*3438G>A rs745480813
NM_004614.5(TK2):c.*615A>C rs886052208
NM_004614.5(TK2):c.*688C>T rs886052207
NM_004614.5(TK2):c.*809C>T rs886052206
NM_004614.5(TK2):c.-30C>G rs3743715
NM_004614.5(TK2):c.-43G>C rs1197038268
NM_004614.5(TK2):c.-48G>A rs781512555
NM_004614.5(TK2):c.125-13C>T rs1373389153
NM_004614.5(TK2):c.125A>C (p.Asp42Ala) rs763416136
NM_004614.5(TK2):c.129_132del (p.Lys43fs) rs281865500
NM_004614.5(TK2):c.144_145del (p.Lys50fs) rs1454450104
NM_004614.5(TK2):c.159C>G (p.Ile53Met) rs137854432
NM_004614.5(TK2):c.166G>C (p.Glu56Gln)
NM_004614.5(TK2):c.169G>A (p.Gly57Ser) rs749123392
NM_004614.5(TK2):c.288C>T (p.Gly96=) rs886052211
NM_004614.5(TK2):c.328C>T (p.Gln110Ter) rs1965109135
NM_004614.5(TK2):c.372_373delinsCT (p.Gln125Ter) rs886039669
NM_004614.5(TK2):c.402G>T (p.Arg134Ser)
NM_004614.5(TK2):c.414C>A (p.Ser138Arg) rs773566302
NM_004614.5(TK2):c.450-13A>G rs886052210
NM_004614.5(TK2):c.547C>G (p.Arg183Gly) rs137886900
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) rs137886900
NM_004614.5(TK2):c.557C>G (p.Pro186Arg)
NM_004614.5(TK2):c.575G>A (p.Arg192Lys) rs281865496
NM_004614.5(TK2):c.604_606del (p.Lys202del) rs281865501
NM_004614.5(TK2):c.635T>A (p.Ile212Asn) rs137854430
NM_004614.5(TK2):c.655T>C (p.Trp219Arg) rs748655443
NM_004614.5(TK2):c.692C>T (p.Pro231Leu) rs2144339570
NM_004614.5(TK2):c.699+13C>T rs373230604
NM_004614.5(TK2):c.699+6_699+9del rs529176585
NM_004614.5(TK2):c.760C>T (p.Arg254Ter) rs281865498
NM_004614.5(TK2):c.8dup (p.Trp4fs) rs281865502

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