ClinVar Miner

List of variants in gene TK2 reported as uncertain significance for mitochondrial DNA depletion syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_004614.5(TK2):c.*1333G>T rs187682220 0.00192
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.*595G>A rs886052209 0.00046
NM_004614.5(TK2):c.*729A>G rs886160476 0.00042
NM_004614.5(TK2):c.*1758del rs886052196 0.00041
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.*2122G>A rs193271947 0.00021
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.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.*1212C>T rs745307045 0.00011
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.375G>C (p.Gln125His) rs760389661 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.473A>G (p.Tyr158Cys) rs553354595 0.00001
NM_004614.5(TK2):c.*1044C>A rs879622108
NM_004614.5(TK2):c.*1463T>G rs1964420428
NM_004614.5(TK2):c.*1591dup rs886052201
NM_004614.5(TK2):c.*1671G>C rs1964415276
NM_004614.5(TK2):c.*1738C>T rs886052198
NM_004614.5(TK2):c.*1739_*1740insC rs886052197
NM_004614.5(TK2):c.*1756_*1757dup rs34931863
NM_004614.5(TK2):c.*1758_*1759insT rs886052195
NM_004614.5(TK2):c.*1758_*1759insTT rs886052195
NM_004614.5(TK2):c.*223G>A rs904749580
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.-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.166G>C (p.Glu56Gln)
NM_004614.5(TK2):c.288C>T (p.Gly96=) rs886052211
NM_004614.5(TK2):c.450-13A>G rs886052210
NM_004614.5(TK2):c.547C>G (p.Arg183Gly) rs137886900
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

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