ClinVar Miner

List of variants in gene GFM1 reported as likely pathogenic for combined oxidative phosphorylation deficiency

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024996.7(GFM1):c.689+908G>A rs751069628 0.00011
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_024996.7(GFM1):c.850C>T (p.Arg284Ter) rs771890880 0.00005
NM_024996.7(GFM1):c.997_998+2del rs763084523 0.00004
NM_024996.7(GFM1):c.1255_1277dup (p.Ser427fs) rs753352064 0.00002
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser) rs119470018 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.1596del (p.Val533fs) rs761095873 0.00001
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp) rs762576741 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.2008C>T (p.Arg670Ter) rs1402362655 0.00001
NM_024996.7(GFM1):c.401_404dup (p.Arg136fs) rs1174797887 0.00001
NM_024996.7(GFM1):c.424del (p.Val142fs) rs886058120 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.1044_1056del (p.Asn349fs)
NM_024996.7(GFM1):c.1083+1G>C
NM_024996.7(GFM1):c.113_116dup (p.Val40fs)
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.1303dup (p.Ala435fs)
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.1424del (p.Arg475fs) rs1723572750
NM_024996.7(GFM1):c.1516C>T (p.Gln506Ter)
NM_024996.7(GFM1):c.1532_1533del (p.Glu511fs) rs768112611
NM_024996.7(GFM1):c.1548T>A (p.Cys516Ter)
NM_024996.7(GFM1):c.154_155del (p.Ala53fs)
NM_024996.7(GFM1):c.1601+1G>A rs748116978
NM_024996.7(GFM1):c.1632dup (p.Gly545fs)
NM_024996.7(GFM1):c.1642C>T (p.Gln548Ter) rs1214047183
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.1799del (p.Ser600fs)
NM_024996.7(GFM1):c.1905_1908del (p.Gln636fs)
NM_024996.7(GFM1):c.1909+2T>A
NM_024996.7(GFM1):c.1951del (p.Ala651fs)
NM_024996.7(GFM1):c.1981C>T (p.Gln661Ter)
NM_024996.7(GFM1):c.2070+1G>A
NM_024996.7(GFM1):c.2097T>G (p.Tyr699Ter)
NM_024996.7(GFM1):c.2125-1G>A
NM_024996.7(GFM1):c.2167T>C (p.Cys723Arg)
NM_024996.7(GFM1):c.247_248del (p.Asp83fs) rs1721780124
NM_024996.7(GFM1):c.273del (p.Met92fs) rs863224033
NM_024996.7(GFM1):c.287_288del (p.Arg96fs)
NM_024996.7(GFM1):c.291_292del (p.Gly99fs) rs752400894
NM_024996.7(GFM1):c.303dup (p.Ile102fs)
NM_024996.7(GFM1):c.323dup (p.Tyr108Ter)
NM_024996.7(GFM1):c.324C>A (p.Tyr108Ter) rs1391874523
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.527T>A (p.Leu176Ter)
NM_024996.7(GFM1):c.532C>T (p.Arg178Ter) rs1721865059
NM_024996.7(GFM1):c.548del (p.Pro183fs)
NM_024996.7(GFM1):c.54del (p.Ala19fs) rs765266988
NM_024996.7(GFM1):c.573-1G>C rs2108009356
NM_024996.7(GFM1):c.573-2A>G
NM_024996.7(GFM1):c.579dup (p.Leu194fs)
NM_024996.7(GFM1):c.626del (p.Gly209fs)
NM_024996.7(GFM1):c.636del (p.Gly213fs)
NM_024996.7(GFM1):c.689+2T>C
NM_024996.7(GFM1):c.690_693del rs778902849
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.787C>T (p.Gln263Ter)
NM_024996.7(GFM1):c.829dup (p.Ser277fs) rs771865940
NM_024996.7(GFM1):c.89_99del (p.Trp30fs) rs763423294
NM_024996.7(GFM1):c.909del (p.Asn303fs)
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.999-1G>A rs757524798
NM_024996.7(GFM1):c.999-1G>C

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.