ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency by Natera, Inc.

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_024996.7(GFM1):c.643G>A (p.Val215Ile) rs2303909 0.58201
NM_024996.7(GFM1):c.18T>C (p.Ala6=) rs1864507 0.58169
NM_024996.7(GFM1):c.*6C>T rs1047355 0.42265
NM_005726.6(TSFM):c.30T>C (p.Phe10=) rs10747783 0.26055
NM_024996.7(GFM1):c.689+891C>T rs56167308 0.17770
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile) rs62288347 0.01504
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser) rs34297061 0.01346
NM_024996.7(GFM1):c.1601+9G>C rs77186707 0.01234
NM_024996.7(GFM1):c.1083+6T>G rs142919829 0.00965
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00900
NM_024996.7(GFM1):c.1209C>T (p.Ala403=) rs149949638 0.00899
NM_005726.6(TSFM):c.796C>A (p.Leu266Ile) rs62000432 0.00702
NM_005726.6(TSFM):c.5C>T (p.Ser2Leu) rs35957924 0.00698
NM_024996.7(GFM1):c.568A>C (p.Met190Leu) rs75450876 0.00510
NM_024996.7(GFM1):c.1593C>T (p.Ala531=) rs114754676 0.00399
NM_024996.7(GFM1):c.2190C>T (p.Asp730=) rs149049400 0.00196
NM_024996.7(GFM1):c.960A>C (p.Pro320=) rs145970222 0.00196
NM_024996.7(GFM1):c.788A>G (p.Gln263Arg) rs115984741 0.00158
NM_024996.7(GFM1):c.220G>T (p.Ala74Ser) rs140377587 0.00155
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_005726.6(TSFM):c.69T>A (p.Leu23=) rs147317818 0.00086
NM_024996.7(GFM1):c.667A>G (p.Ile223Val) rs143446452 0.00081
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala) rs138534976 0.00045
NM_024996.7(GFM1):c.1032C>T (p.Asn344=) rs373952002 0.00036
NM_024996.7(GFM1):c.2143A>G (p.Met715Val) rs147620098 0.00034
NM_005726.6(TSFM):c.814G>C (p.Asp272His) rs138911653 0.00030
NM_024996.7(GFM1):c.1102T>C (p.Leu368=) rs142843314 0.00029
NM_005726.6(TSFM):c.644C>T (p.Ser215Phe) rs376562033 0.00025
NM_024996.7(GFM1):c.1305C>G (p.Ala435=) rs141368418 0.00023
NM_005726.6(TSFM):c.726G>A (p.Thr242=) rs140461538 0.00019
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys) rs191462023 0.00011
NM_024996.7(GFM1):c.1368G>A (p.Lys456=) rs774280744 0.00009
NM_024996.7(GFM1):c.1198C>T (p.Arg400Cys) rs374335959 0.00005
NM_005726.6(TSFM):c.269G>A (p.Gly90Asp) rs371076990 0.00004
NM_005726.6(TSFM):c.885C>T (p.Thr295=) rs750718644 0.00004
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp) rs121909485 0.00004
NM_024996.7(GFM1):c.720del (p.Glu241fs) rs745718158 0.00004
NM_024996.7(GFM1):c.997_998+2del rs763084523 0.00004
NM_005726.6(TSFM):c.10C>T (p.Leu4=) rs765871977 0.00003
NM_005726.6(TSFM):c.816C>T (p.Asp272=) rs183575246 0.00003
NM_024996.7(GFM1):c.1083+8G>T rs753905803 0.00003
NM_024996.7(GFM1):c.139C>T (p.Arg47Ter) rs119470019 0.00002
NM_024996.7(GFM1):c.1576C>T (p.Arg526Ter) rs1004779078 0.00002
NM_024996.7(GFM1):c.51C>T (p.Ala17=) rs937454854 0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser) rs119470018 0.00002
NM_005726.6(TSFM):c.271T>G (p.Trp91Gly) rs542571914 0.00001
NM_005726.6(TSFM):c.484-10G>A rs374795252 0.00001
NM_005726.6(TSFM):c.908_909del (p.Gln303fs) rs1491203033 0.00001
NM_024996.7(GFM1):c.1180C>T (p.Arg394Trp) rs183140307 0.00001
NM_024996.7(GFM1):c.1256C>T (p.Ala419Val) rs1314322801 0.00001
NM_024996.7(GFM1):c.1429G>T (p.Asp477Tyr) rs138058648 0.00001
NM_024996.7(GFM1):c.1830C>T (p.Val610=) rs139680551 0.00001
NM_024996.7(GFM1):c.1910-2A>T rs867885977 0.00001
NM_024996.7(GFM1):c.2016T>C (p.His672=) rs755853174 0.00001
NM_024996.7(GFM1):c.2165C>T (p.Pro722Leu) rs764933537 0.00001
NM_024996.7(GFM1):c.443T>C (p.Val148Ala) rs758591202 0.00001
NM_024996.7(GFM1):c.748C>T (p.Arg250Trp) rs139430866 0.00001
NM_024996.7(GFM1):c.81+1G>A rs1262218849 0.00001
NM_005726.6(TSFM):c.12G>T (p.Leu4=) rs773572404
NM_005726.6(TSFM):c.408G>A (p.Leu136=) rs144109380
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs) rs866604517
NM_024996.7(GFM1):c.1308C>T (p.Asn436=) rs1187874654
NM_024996.7(GFM1):c.1765-2_1765-1del rs1245712932
NM_024996.7(GFM1):c.192A>G (p.Glu64=) rs1576720639
NM_024996.7(GFM1):c.221C>G (p.Ala74Gly) rs778603797
NM_024996.7(GFM1):c.2232del (p.Gly747fs) rs863224034
NM_024996.7(GFM1):c.3G>A (p.Met1Ile) rs863224030
NM_024996.7(GFM1):c.498C>T (p.Asn166=) rs762364300
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) rs567086019
NM_024996.7(GFM1):c.573-1G>C rs2108009356
NM_024996.7(GFM1):c.616G>T (p.Gly206Cys) rs1722080493
NM_024996.7(GFM1):c.825G>A (p.Ser275=) rs1722357550
NM_024996.7(GFM1):c.999-1G>A rs757524798

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