ClinVar Miner

List of variants in gene TSFM 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: 92
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005726.6(TSFM):c.30T>C (p.Phe10=) rs10747783 0.26055
NM_005726.6(TSFM):c.754G>A (p.Val252Ile) rs114694283 0.01391
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_005726.6(TSFM):c.232-19T>G rs112348190 0.00291
NM_005726.6(TSFM):c.24C>T (p.Arg8=) rs138461986 0.00209
NM_005726.6(TSFM):c.*291T>C rs191666277 0.00192
NM_005726.6(TSFM):c.797T>A (p.Leu266His) rs146777264 0.00160
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_005726.6(TSFM):c.*210G>A rs112956536 0.00103
NM_005726.6(TSFM):c.69T>A (p.Leu23=) rs147317818 0.00086
NM_005726.6(TSFM):c.760C>T (p.Arg254Cys) rs200132571 0.00060
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala) rs138534976 0.00045
NM_005726.6(TSFM):c.688G>T (p.Val230Leu) rs151248026 0.00041
NM_005726.6(TSFM):c.814G>C (p.Asp272His) rs138911653 0.00030
NM_005726.6(TSFM):c.644C>T (p.Ser215Phe) rs376562033 0.00025
NM_005726.6(TSFM):c.726G>A (p.Thr242=) rs140461538 0.00019
NM_005726.6(TSFM):c.*381C>T rs528226687 0.00016
NM_005726.6(TSFM):c.361-12T>G rs368313488 0.00016
NM_005726.6(TSFM):c.*412C>T rs184926061 0.00010
NM_005726.6(TSFM):c.*262T>A rs758314098 0.00008
NM_005726.6(TSFM):c.*176T>C rs765248918 0.00006
NM_005726.6(TSFM):c.140A>G (p.Lys47Arg) rs373659284 0.00006
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_005726.6(TSFM):c.944G>A (p.Cys315Tyr) rs587777688 0.00004
NM_005726.6(TSFM):c.*182T>G rs188261377 0.00003
NM_005726.6(TSFM):c.10C>T (p.Leu4=) rs765871977 0.00003
NM_005726.6(TSFM):c.161G>A (p.Arg54Gln) rs202213736 0.00003
NM_005726.6(TSFM):c.787A>T (p.Met263Leu) rs764183902 0.00003
NM_005726.6(TSFM):c.816C>T (p.Asp272=) rs183575246 0.00003
NM_005726.6(TSFM):c.*656A>G rs985828528 0.00002
NM_005726.6(TSFM):c.322G>A (p.Gly108Arg) rs374679403 0.00002
NM_005726.6(TSFM):c.*461T>C rs886049733 0.00001
NM_005726.6(TSFM):c.*554A>G rs144070678 0.00001
NM_005726.6(TSFM):c.271T>G (p.Trp91Gly) rs542571914 0.00001
NM_005726.6(TSFM):c.361-14A>G rs759604491 0.00001
NM_005726.6(TSFM):c.403C>T (p.Gln135Ter) rs751169823 0.00001
NM_005726.6(TSFM):c.484-10G>A rs374795252 0.00001
NM_005726.6(TSFM):c.484-11C>T rs752312466 0.00001
NM_005726.6(TSFM):c.48G>A (p.Gly16=) rs780011862 0.00001
NM_005726.6(TSFM):c.520G>T (p.Ala174Ser) rs886049731 0.00001
NM_005726.6(TSFM):c.557T>A (p.Leu186Ter) rs373811833 0.00001
NM_005726.6(TSFM):c.571+1G>C rs750371292 0.00001
NM_005726.6(TSFM):c.601C>T (p.Arg201Ter) rs768320625 0.00001
NM_005726.6(TSFM):c.908_909del (p.Gln303fs) rs1491203033 0.00001
NM_001172696.1(TSFM):c.[355G>C];[997C>T]
NM_005726.6(TSFM):c.*20C>T rs886049732
NM_005726.6(TSFM):c.*491G>A rs1955751830
NM_005726.6(TSFM):c.*558C>T rs1955752539
NM_005726.6(TSFM):c.*561A>C rs886049734
NM_005726.6(TSFM):c.*98A>G rs1955745507
NM_005726.6(TSFM):c.115dup (p.Arg39fs)
NM_005726.6(TSFM):c.12G>T (p.Leu4=) rs773572404
NM_005726.6(TSFM):c.139A>T (p.Lys47Ter)
NM_005726.6(TSFM):c.177_187del (p.Tyr59_Asn63delinsTer)
NM_005726.6(TSFM):c.192C>A (p.Cys64Ter) rs752852871
NM_005726.6(TSFM):c.223del (p.Leu75fs)
NM_005726.6(TSFM):c.231+1G>A
NM_005726.6(TSFM):c.231+1GT[6] rs762424912
NM_005726.6(TSFM):c.232-8A>G rs768661125
NM_005726.6(TSFM):c.233C>T (p.Ala78Val) rs886049729
NM_005726.6(TSFM):c.243G>A (p.Trp81Ter)
NM_005726.6(TSFM):c.250A>T (p.Lys84Ter)
NM_005726.6(TSFM):c.259C>T (p.Gln87Ter)
NM_005726.6(TSFM):c.27_28del (p.Phe10fs) rs2140412540
NM_005726.6(TSFM):c.321T>G (p.Ile107Met)
NM_005726.6(TSFM):c.375A>G (p.Thr125=) rs886049730
NM_005726.6(TSFM):c.382del (p.Val128fs)
NM_005726.6(TSFM):c.399del (p.Lys133fs) rs1955600413
NM_005726.6(TSFM):c.408G>A (p.Leu136=) rs144109380
NM_005726.6(TSFM):c.484-1G>A
NM_005726.6(TSFM):c.484G>A (p.Gly162Ser)
NM_005726.6(TSFM):c.545_548del (p.Leu182fs)
NM_005726.6(TSFM):c.551del (p.Asp184fs)
NM_005726.6(TSFM):c.57+1G>A rs1403882425
NM_005726.6(TSFM):c.57+4A>G rs587777689
NM_005726.6(TSFM):c.5C>A (p.Ser2Ter)
NM_005726.6(TSFM):c.600dup (p.Arg201fs)
NM_005726.6(TSFM):c.611G>A (p.Trp204Ter)
NM_005726.6(TSFM):c.628_629insCATG (p.Gly210fs)
NM_005726.6(TSFM):c.719G>C (p.Cys240Ser)
NM_005726.6(TSFM):c.748G>T (p.Glu250Ter) rs1955738689
NM_005726.6(TSFM):c.74del (p.Arg25fs)
NM_005726.6(TSFM):c.76C>T (p.Gln26Ter) rs774870834
NM_005726.6(TSFM):c.774G>C (p.Gln258His)
NM_005726.6(TSFM):c.796dup (p.Leu266fs)
NM_005726.6(TSFM):c.797delinsGG (p.Leu266fs)
NM_005726.6(TSFM):c.808_809del (p.Ser270fs)
NM_005726.6(TSFM):c.830del (p.Gly277fs) rs1190369642
NM_005726.6(TSFM):c.85C>T (p.Gln29Ter) rs2140413092

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.