ClinVar Miner

List of variants in gene GFM1 studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 222
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HGVS dbSNP gnomAD frequency
NM_024996.7(GFM1):c.*226C>T rs1047366 0.58206
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.81+84C>G rs1864505 0.42613
NM_024996.7(GFM1):c.*6C>T rs1047355 0.42265
NM_024996.7(GFM1):c.*691T>A rs8650 0.42246
NM_024996.7(GFM1):c.690-87A>G rs9810874 0.42203
NM_024996.7(GFM1):c.1083+82T>C rs9884039 0.42175
NM_024996.7(GFM1):c.1083+57C>T rs62286656 0.36155
NM_024996.7(GFM1):c.81+22A>G rs1864506 0.35797
NM_024996.7(GFM1):c.689+891C>T rs56167308 0.17770
NM_024996.7(GFM1):c.-33C>T rs28372852 0.17766
NM_024996.7(GFM1):c.1323+83A>G rs2291595 0.15507
NM_024996.7(GFM1):c.1323+72A>G rs2291594 0.10832
NM_024996.7(GFM1):c.*713C>T rs16829307 0.02621
NM_024996.7(GFM1):c.*483_*484insTA rs10662631 0.01750
NM_024996.7(GFM1):c.-11C>T rs112860155 0.01649
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_024996.7(GFM1):c.-31A>G rs28372853 0.00742
NM_024996.7(GFM1):c.*766G>T rs114751518 0.00689
NM_024996.7(GFM1):c.2071-17A>G rs76679758 0.00671
NM_024996.7(GFM1):c.*539C>T rs75254073 0.00563
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.*950C>T rs372706819 0.00124
NM_024996.7(GFM1):c.690-5C>G rs201685981 0.00124
NM_024996.7(GFM1):c.*1004T>C rs190120734 0.00117
NM_024996.7(GFM1):c.2070+11T>G rs150000838 0.00100
NM_024996.7(GFM1):c.667A>G (p.Ile223Val) rs143446452 0.00081
NM_024996.7(GFM1):c.1343A>G (p.Asp448Gly) rs146951325 0.00080
NM_024996.7(GFM1):c.*731C>T rs189114088 0.00074
NM_024996.7(GFM1):c.1324-15T>A rs375168014 0.00057
NM_024996.7(GFM1):c.235-14G>A rs201304690 0.00053
NM_024996.7(GFM1):c.-38C>T rs377352238 0.00037
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_024996.7(GFM1):c.1102T>C (p.Leu368=) rs142843314 0.00029
NM_024996.7(GFM1):c.1494A>G (p.Glu498=) rs149454742 0.00029
NM_024996.7(GFM1):c.1831C>T (p.Leu611=) rs190393538 0.00026
NM_024996.7(GFM1):c.1305C>G (p.Ala435=) rs141368418 0.00023
NM_024996.7(GFM1):c.373G>A (p.Val125Met) rs200923387 0.00023
NM_024996.7(GFM1):c.*429C>T rs914802350 0.00012
NM_024996.7(GFM1):c.622G>A (p.Glu208Lys) rs191462023 0.00011
NM_024996.7(GFM1):c.689+908G>A rs751069628 0.00011
NM_024996.7(GFM1):c.*1033A>G rs919876624 0.00010
NM_024996.7(GFM1):c.*578C>T rs758670778 0.00010
NM_024996.7(GFM1):c.1368G>A (p.Lys456=) rs774280744 0.00009
NM_024996.7(GFM1):c.1948A>G (p.Met650Val) rs147847472 0.00008
NM_024996.7(GFM1):c.*164C>A rs924668466 0.00006
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_024996.7(GFM1):c.1198C>T (p.Arg400Cys) rs374335959 0.00005
NM_024996.7(GFM1):c.234+12C>T rs372189223 0.00005
NM_024996.7(GFM1):c.702A>G (p.Arg234=) rs377418512 0.00005
NM_024996.7(GFM1):c.850C>T (p.Arg284Ter) rs771890880 0.00005
NM_024996.7(GFM1):c.1383C>T (p.Asn461=) rs774976760 0.00004
NM_024996.7(GFM1):c.596C>T (p.Ala199Val) rs145247687 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_024996.7(GFM1):c.1083+8G>T rs753905803 0.00003
NM_024996.7(GFM1):c.1823G>A (p.Arg608Gln) rs541171482 0.00003
NM_024996.7(GFM1):c.1852A>G (p.Met618Val) rs767798328 0.00003
NM_024996.7(GFM1):c.*119G>A rs886058122 0.00002
NM_024996.7(GFM1):c.*559T>C rs886058124 0.00002
NM_024996.7(GFM1):c.1255_1277dup (p.Ser427fs) rs753352064 0.00002
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.344A>G (p.Asn115Ser) rs779253646 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_024996.7(GFM1):c.661C>T (p.Arg221Ter) rs780762234 0.00002
NM_024996.7(GFM1):c.77A>G (p.Lys26Arg) rs574200635 0.00002
NM_024996.7(GFM1):c.100C>T (p.Arg34Ter) rs766234016 0.00001
NM_024996.7(GFM1):c.1090C>T (p.Arg364Ter) rs775919783 0.00001
NM_024996.7(GFM1):c.1118G>A (p.Ser373Asn) rs1023544297 0.00001
NM_024996.7(GFM1):c.1180C>T (p.Arg394Trp) rs183140307 0.00001
NM_024996.7(GFM1):c.1221+20G>A rs1412836196 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.1596del (p.Val533fs) rs761095873 0.00001
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp) rs762576741 0.00001
NM_024996.7(GFM1):c.1830C>T (p.Val610=) rs139680551 0.00001
NM_024996.7(GFM1):c.1882C>T (p.Arg628Ter) rs889180452 0.00001
NM_024996.7(GFM1):c.1910-1G>A rs1462851267 0.00001
NM_024996.7(GFM1):c.1910-2A>T rs867885977 0.00001
NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu) rs1390685552 0.00001
NM_024996.7(GFM1):c.2008C>T (p.Arg670Ter) rs1402362655 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.409G>A (p.Val137Met) rs767325554 0.00001
NM_024996.7(GFM1):c.424del (p.Val142fs) rs886058120 0.00001
NM_024996.7(GFM1):c.443T>C (p.Val148Ala) rs758591202 0.00001
NM_024996.7(GFM1):c.607A>G (p.Ile203Val) rs1722079229 0.00001
NM_024996.7(GFM1):c.688G>A (p.Gly230Ser) rs774456344 0.00001
NM_024996.7(GFM1):c.689+1G>A rs1449057162 0.00001
NM_024996.7(GFM1):c.69G>A (p.Trp23Ter) rs763344414 0.00001
NM_024996.7(GFM1):c.700C>T (p.Arg234Ter) rs863224032 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_024996.7(GFM1):c.897C>T (p.Ser299=) rs763546447 0.00001
NM_024996.7(GFM1):c.958C>G (p.Pro320Ala) rs781397040 0.00001
NM_024996.7(GFM1):c.*116C>T rs115593809
NM_024996.7(GFM1):c.*245A>C rs886058123
NM_024996.7(GFM1):c.*454_*456del rs367730845
NM_024996.7(GFM1):c.*572A>G rs1726365121
NM_024996.7(GFM1):c.*635A>T rs1398384267
NM_024996.7(GFM1):c.*803T>C rs1726381360
NM_024996.7(GFM1):c.-66C>G rs564879457
NM_024996.7(GFM1):c.-73C>T rs116614958
NM_024996.7(GFM1):c.-85C>T rs893145449
NM_024996.7(GFM1):c.1044_1056del (p.Asn349fs)
NM_024996.7(GFM1):c.1083+3A>G rs187690169
NM_024996.7(GFM1):c.113_116dup (p.Val40fs)
NM_024996.7(GFM1):c.1149_1160del (p.Ile384_Thr387del) rs1576745248
NM_024996.7(GFM1):c.114_115del (p.Val40fs)
NM_024996.7(GFM1):c.114del (p.Gly39_Val40insTer)
NM_024996.7(GFM1):c.1157dup (p.Asn386fs)
NM_024996.7(GFM1):c.1172del (p.Lys391fs) rs1263604546
NM_024996.7(GFM1):c.1186C>T (p.Gln396Ter) rs1332636394
NM_024996.7(GFM1):c.1193T>C (p.Leu398Pro)
NM_024996.7(GFM1):c.1209C>A (p.Ala403=)
NM_024996.7(GFM1):c.1297_1300del (p.Asp433fs) rs866604517
NM_024996.7(GFM1):c.1303dup (p.Ala435fs)
NM_024996.7(GFM1):c.1308C>T (p.Asn436=) rs1187874654
NM_024996.7(GFM1):c.1324G>T (p.Glu442Ter) rs757691557
NM_024996.7(GFM1):c.136del (p.Ile46fs)
NM_024996.7(GFM1):c.1380+2T>G
NM_024996.7(GFM1):c.1381-1G>C
NM_024996.7(GFM1):c.1384G>T (p.Asp462Tyr) rs200244667
NM_024996.7(GFM1):c.1385A>G (p.Asp462Gly) rs886058121
NM_024996.7(GFM1):c.1396T>C (p.Phe466Leu)
NM_024996.7(GFM1):c.1404del (p.Gly469fs) rs779877297
NM_024996.7(GFM1):c.1406G>A (p.Gly469Asp) rs750855220
NM_024996.7(GFM1):c.1424del (p.Arg475fs) rs1723572750
NM_024996.7(GFM1):c.1487T>G (p.Met496Arg) rs119470020
NM_024996.7(GFM1):c.1510del (p.Tyr504fs) rs1560135485
NM_024996.7(GFM1):c.1516C>T (p.Gln506Ter)
NM_024996.7(GFM1):c.1518+1G>A rs1560135491
NM_024996.7(GFM1):c.1519-25A>G rs7628497
NM_024996.7(GFM1):c.152T>G (p.Ile51Ser)
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs) rs768112611
NM_024996.7(GFM1):c.1546T>C (p.Cys516Arg) rs1576757241
NM_024996.7(GFM1):c.154_155del (p.Ala53fs)
NM_024996.7(GFM1):c.1571C>T (p.Ala524Val) rs143031224
NM_024996.7(GFM1):c.1601+1G>A rs748116978
NM_024996.7(GFM1):c.1632dup (p.Gly545fs)
NM_024996.7(GFM1):c.166_169dup (p.Ser57Ter) rs752037355
NM_024996.7(GFM1):c.1764+2T>C rs1725442904
NM_024996.7(GFM1):c.1765-2A>G rs2108102423
NM_024996.7(GFM1):c.1765-2_1765-1del rs1245712932
NM_024996.7(GFM1):c.1781G>A (p.Cys594Tyr) rs1576790457
NM_024996.7(GFM1):c.1799del (p.Ser600fs)
NM_024996.7(GFM1):c.1897G>C (p.Ala633Pro)
NM_024996.7(GFM1):c.1905_1908del (p.Gln636fs)
NM_024996.7(GFM1):c.1909+2T>A
NM_024996.7(GFM1):c.192A>G (p.Glu64=) rs1576720639
NM_024996.7(GFM1):c.193C>A (p.Arg65=) rs62286651
NM_024996.7(GFM1):c.193C>T (p.Arg65Ter) rs62286651
NM_024996.7(GFM1):c.1951del (p.Ala651fs)
NM_024996.7(GFM1):c.1981C>T (p.Gln661Ter)
NM_024996.7(GFM1):c.2167T>C (p.Cys723Arg)
NM_024996.7(GFM1):c.221C>G (p.Ala74Gly) rs778603797
NM_024996.7(GFM1):c.2232del (p.Gly747fs) rs863224034
NM_024996.7(GFM1):c.247_248del (p.Asp83fs) rs1721780124
NM_024996.7(GFM1):c.248A>T (p.Asp83Val) rs1576721522
NM_024996.7(GFM1):c.273del (p.Met92fs) rs863224033
NM_024996.7(GFM1):c.291_292del (p.Gly99fs) rs752400894
NM_024996.7(GFM1):c.324C>G (p.Tyr108Ter)
NM_024996.7(GFM1):c.361dup (p.Thr121fs)
NM_024996.7(GFM1):c.362_367delinsTT (p.Thr121fs)
NM_024996.7(GFM1):c.367+1G>A
NM_024996.7(GFM1):c.368-2A>C
NM_024996.7(GFM1):c.368-2A>G
NM_024996.7(GFM1):c.381del (p.Phe127fs)
NM_024996.7(GFM1):c.395A>C (p.Glu132Ala) rs1553847587
NM_024996.7(GFM1):c.3G>A (p.Met1Ile) rs863224030
NM_024996.7(GFM1):c.408A>T (p.Arg136Ser) rs1721844379
NM_024996.7(GFM1):c.498C>T (p.Asn166=) rs762364300
NM_024996.7(GFM1):c.527T>A (p.Leu176Ter)
NM_024996.7(GFM1):c.532C>T (p.Arg178Ter) rs1721865059
NM_024996.7(GFM1):c.539del (p.Gly180fs) rs1362847020
NM_024996.7(GFM1):c.54del (p.Ala19fs) rs765266988
NM_024996.7(GFM1):c.56C>T (p.Ala19Val) rs567086019
NM_024996.7(GFM1):c.573-1G>C rs2108009356
NM_024996.7(GFM1):c.573-2A>G
NM_024996.7(GFM1):c.575C>A (p.Ser192Tyr)
NM_024996.7(GFM1):c.579dup (p.Leu194fs)
NM_024996.7(GFM1):c.616G>T (p.Gly206Cys) rs1722080493
NM_024996.7(GFM1):c.626del (p.Gly209fs)
NM_024996.7(GFM1):c.636del (p.Gly213fs)
NM_024996.7(GFM1):c.679G>A (p.Gly227Arg)
NM_024996.7(GFM1):c.689+2T>C
NM_024996.7(GFM1):c.690_693del rs778902849
NM_024996.7(GFM1):c.701G>A (p.Arg234Gln) rs1202361363
NM_024996.7(GFM1):c.705T>G (p.Tyr235Ter)
NM_024996.7(GFM1):c.725T>G (p.Leu242Ter)
NM_024996.7(GFM1):c.748del (p.Arg250fs) rs2108016910
NM_024996.7(GFM1):c.754G>A (p.Glu252Lys)
NM_024996.7(GFM1):c.787C>T (p.Gln263Ter)
NM_024996.7(GFM1):c.81+5C>T rs886058119
NM_024996.7(GFM1):c.817dup (p.Ile273fs)
NM_024996.7(GFM1):c.825G>A (p.Ser275=) rs1722357550
NM_024996.7(GFM1):c.829dup (p.Ser277fs) rs771865940
NM_024996.7(GFM1):c.830C>T (p.Ser277Phe)
NM_024996.7(GFM1):c.881C>T (p.Pro294Leu) rs1722451256
NM_024996.7(GFM1):c.89_99del (p.Trp30fs) rs763423294
NM_024996.7(GFM1):c.909del (p.Asn303fs)
NM_024996.7(GFM1):c.914del (p.Gly305fs)
NM_024996.7(GFM1):c.929T>G (p.Leu310Ter)
NM_024996.7(GFM1):c.952C>T (p.Pro318Ser) rs1722463582
NM_024996.7(GFM1):c.974del (p.Asn325fs)
NM_024996.7(GFM1):c.987C>A (p.Leu329=) rs531887279
NM_024996.7(GFM1):c.999-1G>A rs757524798
NM_024996.7(GFM1):c.999-1G>C

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