ClinVar Miner

List of variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 by Illumina Laboratory Services, Illumina

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Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001151.4(SLC25A4):c.*512A>G rs7660552 0.90870
NM_001151.4(SLC25A4):c.*2307T>C rs2046535 0.42438
NM_001151.4(SLC25A4):c.*2943G>A rs7675110 0.42427
NM_001151.4(SLC25A4):c.*1053T>C rs55905558 0.42184
NM_001151.4(SLC25A4):c.-25G>A rs3733652 0.04735
NM_001151.4(SLC25A4):c.*873G>A rs76680834 0.02960
NM_001151.4(SLC25A4):c.*3114C>A rs147626367 0.02525
NM_001151.4(SLC25A4):c.*957T>C rs11930741 0.01671
NM_001151.4(SLC25A4):c.*2050A>G rs76364770 0.01609
NM_001151.4(SLC25A4):c.681G>A (p.Val227=) rs34486484 0.00972
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873 0.00911
NM_001151.4(SLC25A4):c.*2476G>A rs76335670 0.00573
NM_001151.4(SLC25A4):c.*2529C>T rs113950388 0.00401
NM_001151.4(SLC25A4):c.*1792C>A rs3733653 0.00213
NM_001151.4(SLC25A4):c.*1985T>C rs3733654 0.00133
NM_001151.4(SLC25A4):c.-103C>T rs190592847 0.00067
NM_001151.4(SLC25A4):c.*3195T>C rs182549219 0.00056
NM_001151.4(SLC25A4):c.*2466C>A rs142255349 0.00054
NM_001151.4(SLC25A4):c.*2824G>C rs371093501 0.00045
NM_001151.4(SLC25A4):c.*3110G>C rs116996106 0.00042
NM_001151.4(SLC25A4):c.*1245T>A rs77959660 0.00041
NM_001151.4(SLC25A4):c.*3317G>A rs752130203 0.00034
NM_001151.4(SLC25A4):c.*3229A>G rs962471297 0.00024
NM_001151.4(SLC25A4):c.*1546T>C rs762473759 0.00023
NM_001151.4(SLC25A4):c.*1163G>T rs886059272 0.00019
NM_001151.4(SLC25A4):c.*2616C>T rs769378373 0.00018
NM_001151.4(SLC25A4):c.*2697T>C rs768164742 0.00014
NM_001151.4(SLC25A4):c.*3276C>T rs187103619 0.00013
NM_001151.4(SLC25A4):c.756G>A (p.Thr252=) rs150786764 0.00011
NM_001151.4(SLC25A4):c.*3025G>A rs773137655 0.00009
NM_001151.4(SLC25A4):c.-65C>T rs1003618782 0.00009
NM_001151.4(SLC25A4):c.*3277G>A rs886059277 0.00006
NM_001151.4(SLC25A4):c.*671A>G rs181474745 0.00006
NM_001151.4(SLC25A4):c.-46G>A rs763271934 0.00005
NM_001151.4(SLC25A4):c.*2592C>T rs575736094 0.00004
NM_001151.4(SLC25A4):c.*3070C>T rs539027516 0.00004
NM_001151.4(SLC25A4):c.*3336G>A rs925362228 0.00004
NM_001151.4(SLC25A4):c.*448G>A rs767635362 0.00004
NM_001151.4(SLC25A4):c.*994G>A rs901529350 0.00004
NM_001151.4(SLC25A4):c.*1217A>C rs1048884006 0.00003
NM_001151.4(SLC25A4):c.*2618C>G rs1271807284 0.00003
NM_001151.4(SLC25A4):c.*1146T>C rs537652975 0.00002
NM_001151.4(SLC25A4):c.*655G>C rs951763559 0.00002
NM_001151.4(SLC25A4):c.*151T>C rs373871091 0.00001
NM_001151.4(SLC25A4):c.*2350G>C rs886059274 0.00001
NM_001151.4(SLC25A4):c.*2782G>A rs886059276 0.00001
NM_001151.4(SLC25A4):c.*3264G>A rs1246606859 0.00001
NM_001151.4(SLC25A4):c.*3335C>T rs1734517872 0.00001
NM_001151.4(SLC25A4):c.*3394A>G rs1449333012 0.00001
NM_001151.4(SLC25A4):c.*497T>G rs562129249 0.00001
NM_001151.4(SLC25A4):c.243C>T (p.Tyr81=) rs779064025 0.00001
NM_001151.4(SLC25A4):c.793G>A (p.Glu265Lys) rs772055424 0.00001
NM_001151.4(SLC25A4):c.*1378A>G rs868358526
NM_001151.4(SLC25A4):c.*2150G>T rs894890311
NM_001151.4(SLC25A4):c.*2363G>A rs753110221
NM_001151.4(SLC25A4):c.*2475C>T rs192241746
NM_001151.4(SLC25A4):c.*2499G>T rs1579212062
NM_001151.4(SLC25A4):c.*2510T>C rs1579212069
NM_001151.4(SLC25A4):c.*2713G>A rs886059275
NM_001151.4(SLC25A4):c.*2720G>A rs559222593
NM_001151.4(SLC25A4):c.*277C>T rs190251889
NM_001151.4(SLC25A4):c.*2802C>T rs1031240359
NM_001151.4(SLC25A4):c.*424A>G rs886059269
NM_001151.4(SLC25A4):c.*481G>T rs78882199
NM_001151.4(SLC25A4):c.*482G>C rs1734462158
NM_001151.4(SLC25A4):c.*571T>G rs370688019
NM_001151.4(SLC25A4):c.*824C>T rs779103031
NM_001151.4(SLC25A4):c.-84C>A rs183128370
NM_001151.4(SLC25A4):c.732G>C (p.Arg244=) rs886059266

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