ClinVar Miner

List of variants reported as benign for combined oxidative phosphorylation deficiency by Invitae

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_024537.4(CARS2):c.852A>G (p.Glu284=) rs4628819 0.77143
NM_024537.4(CARS2):c.1239T>C (p.Asp413=) rs436462 0.42363
NM_006567.5(FARS2):c.1217+40158C>T rs4960122 0.40713
NM_018127.7(ELAC2):c.1305-8T>C rs3760316 0.32355
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu) rs4792311 0.27559
NM_018127.7(ELAC2):c.297-11T>C rs58809197 0.27292
NM_018127.7(ELAC2):c.1218+15C>T rs55825263 0.26965
NM_018127.7(ELAC2):c.1304+17A>T rs55674356 0.26960
NM_024537.4(CARS2):c.417C>T (p.Leu139=) rs2304767 0.23275
NM_012123.4(MTO1):c.1180T>C (p.Leu394=) rs2036039 0.20359
NM_024537.4(CARS2):c.1664A>C (p.Gln555Pro) rs1043886 0.10889
NM_018127.7(ELAC2):c.1893A>G (p.Thr631=) rs17552022 0.08581
NM_018127.7(ELAC2):c.491-14T>C rs74556312 0.08556
NM_024537.4(CARS2):c.538A>T (p.Ile180Phe) rs72661692 0.07201
NM_152269.5(MTRFR):c.273C>T (p.Ile91=) rs2280424 0.04534
NM_012123.4(MTO1):c.1918-7T>G rs73452515 0.04248
NM_018127.7(ELAC2):c.798-20G>T rs77528900 0.03735
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739 0.02886
NM_006567.5(FARS2):c.339C>T (p.Tyr113=) rs41302853 0.02609
NM_018127.7(ELAC2):c.2130C>T (p.Ser710=) rs7217826 0.02093
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln) rs78651634 0.01784
NM_024537.4(CARS2):c.647G>A (p.Gly216Glu) rs146773721 0.01595
NM_018127.7(ELAC2):c.1389C>T (p.Tyr463=) rs77972324 0.01451
NM_024537.4(CARS2):c.1132C>T (p.Arg378Cys) rs79081036 0.01302
NM_006567.5(FARS2):c.102G>A (p.Ser34=) rs113155624 0.00836
NM_006567.5(FARS2):c.170C>G (p.Ser57Cys) rs34382405 0.00823
NM_018127.7(ELAC2):c.1479G>C (p.Pro493=) rs140335642 0.00771
NM_024537.4(CARS2):c.1624-12C>G rs115116722 0.00724
NM_018127.7(ELAC2):c.368-4T>A rs139778647 0.00657
NM_024537.4(CARS2):c.1681A>G (p.Lys561Glu) rs188068027 0.00590
NM_024537.4(CARS2):c.1317+10C>T rs141996297 0.00555
NM_018127.7(ELAC2):c.1305-9_1305-8insCTC rs370493014 0.00515
NM_012123.4(MTO1):c.1894C>T (p.Leu632=) rs117757245 0.00506
NM_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033 0.00455
NM_012123.4(MTO1):c.1368T>C (p.Thr456=) rs115654622 0.00454
NM_024537.4(CARS2):c.1054+8G>A rs374859 0.00434
NM_024537.4(CARS2):c.1417-17C>T rs113709957 0.00417
NM_024537.4(CARS2):c.1489G>A (p.Val497Ile) rs146355429 0.00386
NM_006567.5(FARS2):c.468G>A (p.Thr156=) rs73718083 0.00382
NM_024537.4(CARS2):c.64G>A (p.Gly22Arg) rs534818713 0.00328
NM_012123.4(MTO1):c.1086C>G (p.Ile362Met) rs147329295 0.00309
NM_024537.4(CARS2):c.1128C>T (p.Asp376=) rs142070578 0.00308
NM_018127.7(ELAC2):c.560-2A>G rs149733287 0.00275
NM_024537.4(CARS2):c.930C>T (p.His310=) rs143532600 0.00232
NM_018127.7(ELAC2):c.174G>A (p.Val58=) rs2286334 0.00196
NM_024537.4(CARS2):c.1531G>A (p.Ala511Thr) rs147216443 0.00166
NM_024537.4(CARS2):c.1318-12G>A rs191969046 0.00161
NM_006567.5(FARS2):c.183C>T (p.Asp61=) rs73718082 0.00156
NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val) rs119484087 0.00156
NM_152269.5(MTRFR):c.468A>G (p.Lys156=) rs147972301 0.00088
NM_024537.4(CARS2):c.586G>A (p.Asp196Asn) rs140082252 0.00087
NM_012123.4(MTO1):c.176G>C (p.Gly59Ala) rs201279883 0.00085
NM_152269.5(MTRFR):c.243C>T (p.Cys81=) rs140411575 0.00081
NM_024537.4(CARS2):c.564G>A (p.Thr188=) rs76988055 0.00049
NM_018127.7(ELAC2):c.95C>G (p.Pro32Arg) rs544551424 0.00047
NM_018127.7(ELAC2):c.1692C>T (p.Arg564=) rs117582762 0.00041
NM_018127.7(ELAC2):c.9G>C (p.Ala3=) rs764509473 0.00036
NM_012123.4(MTO1):c.1637+16A>G rs201990339 0.00034
NM_024537.4(CARS2):c.1308G>A (p.Ala436=) rs141349632 0.00027
NM_024537.4(CARS2):c.1059C>T (p.Ile353=) rs200079151 0.00009
NM_006567.5(FARS2):c.288C>T (p.His96=) rs201410497 0.00006
NM_018127.7(ELAC2):c.1424-16A>G rs149112672 0.00004
NM_018127.7(ELAC2):c.2108+14G>A rs199942266 0.00004
NM_018127.7(ELAC2):c.1468T>G (p.Ser490Ala) rs149210630 0.00003
NM_018127.7(ELAC2):c.679+9A>G rs756430924 0.00003
NM_152269.5(MTRFR):c.309G>A (p.Gln103=) rs573747271 0.00003
NM_006567.5(FARS2):c.462G>A (p.Ala154=) rs150477330
NM_006567.5(FARS2):c.829A>G (p.Met277Val)
NM_006567.5(FARS2):c.835A>G (p.Ile279Val)
NM_006567.5(FARS2):c.839A>C (p.Asn280Thr) rs11243011
NM_006567.5(FARS2):c.839A>G (p.Asn280Ser) rs11243011
NM_006567.5(FARS2):c.846T>A (p.His282Gln) rs764139130
NM_012123.4(MTO1):c.1059A>G (p.Leu353=) rs201656868
NM_012123.4(MTO1):c.1785A>G (p.Gln595=) rs147990749
NM_012123.4(MTO1):c.1917+17_1917+19del rs760158320
NM_012123.4(MTO1):c.938+7= rs7766570
NM_018127.7(ELAC2):c.1305-6dup rs200410915
NM_018127.7(ELAC2):c.1305-8_1305-7insTCTC rs201830045
NM_018127.7(ELAC2):c.1424-6del rs2040589080
NM_018127.7(ELAC2):c.1424-6dup
NM_018127.7(ELAC2):c.1560A>G (p.Thr520=) rs11545302
NM_018127.7(ELAC2):c.1699-8dup rs878855049
NM_018127.7(ELAC2):c.1809-5del
NM_018127.7(ELAC2):c.797+14del rs748817791
NM_024537.4(CARS2):c.394-13A>C rs575543110
NM_024537.4(CARS2):c.572-3_572-2del rs201758363
NM_024537.4(CARS2):c.920-8del rs2139748776

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