ClinVar Miner

List of variants studied for Multiple mitochondrial dysfunctions syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 117
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001002755.4(NFU1):c.74T>A (p.Met25Lys) rs4453725 0.37109
NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys) rs74637005 0.02312
NM_001002755.4(NFU1):c.62+9C>T rs114846829 0.01785
NM_001002755.2(NFU1):c.-166T>C rs73934936 0.01772
NM_001002755.4(NFU1):c.151G>T (p.Ala51Ser) rs76646410 0.01252
NM_001002755.4(NFU1):c.411T>C (p.Ile137=) rs12474866 0.00972
NM_001002755.4(NFU1):c.-6A>G rs116604978 0.00569
NM_001002755.2(NFU1):c.-119G>A rs372505661 0.00341
NM_001002755.2(NFU1):c.-200G>A rs531177766 0.00121
NM_001002755.4(NFU1):c.166+8T>A rs199927640 0.00078
NM_001002755.4(NFU1):c.*103G>A rs774104725 0.00064
NM_001002755.4(NFU1):c.167-13T>G rs181762580 0.00055
NM_001002755.4(NFU1):c.303-19A>G rs141033711 0.00031
NM_001002755.4(NFU1):c.17G>A (p.Arg6Lys) rs746094022 0.00016
NM_001002755.4(NFU1):c.62+10G>A rs773351968 0.00016
NM_001002755.4(NFU1):c.545+11C>T rs775731328 0.00015
NM_001002755.4(NFU1):c.545+9T>C rs767405381 0.00015
NM_001002755.4(NFU1):c.622G>T (p.Gly208Cys) rs374514431 0.00012
NM_001002755.2(NFU1):c.-134A>G rs768859205 0.00010
NM_001002755.4(NFU1):c.299C>G (p.Ala100Gly) rs139171264 0.00009
NM_001002755.4(NFU1):c.303-2A>T rs371546359 0.00008
NM_001002755.4(NFU1):c.698C>T (p.Pro233Leu) rs777602937 0.00008
NM_001002755.4(NFU1):c.708A>G (p.Glu236=) rs374693682 0.00007
NM_001002755.2(NFU1):c.-179C>G rs992843651 0.00005
NM_001002755.2(NFU1):c.-66C>T rs753424678 0.00005
NM_001002755.4(NFU1):c.20G>T (p.Arg7Leu) rs765309844 0.00005
NM_001002755.4(NFU1):c.545+4C>T rs371601286 0.00005
NM_001002755.4(NFU1):c.546-16T>C rs750424685 0.00004
NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp) rs377381866 0.00004
NM_001002755.4(NFU1):c.371A>G (p.Glu124Gly) rs1235176737 0.00003
NM_001002755.4(NFU1):c.526T>C (p.Leu176=) rs778531770 0.00003
NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe) rs201634470 0.00003
NM_001002755.4(NFU1):c.702G>A (p.Glu234=) rs561482249 0.00003
NM_001002755.4(NFU1):c.720+4T>A rs1006415808 0.00003
NM_001002755.2(NFU1):c.-175G>T rs764708513 0.00002
NM_001002755.4(NFU1):c.528G>A (p.Leu176=) rs368931176 0.00002
NM_001002755.4(NFU1):c.636C>G (p.Ser212Arg) rs1272262379 0.00002
NM_001002755.4(NFU1):c.697C>A (p.Pro233Thr) rs890733293 0.00002
NM_001002755.2(NFU1):c.-197T>G rs886056269 0.00001
NM_001002755.4(NFU1):c.-1G>A rs886056267 0.00001
NM_001002755.4(NFU1):c.12G>A (p.Thr4=) rs767315359 0.00001
NM_001002755.4(NFU1):c.145C>A (p.Pro49Thr) rs113707482 0.00001
NM_001002755.4(NFU1):c.154T>G (p.Phe52Val) rs770513953 0.00001
NM_001002755.4(NFU1):c.240T>A (p.Val80=) rs1673342171 0.00001
NM_001002755.4(NFU1):c.283T>C (p.Phe95Leu) rs1673339978 0.00001
NM_001002755.4(NFU1):c.300T>C (p.Ala100=) rs201828730 0.00001
NM_001002755.4(NFU1):c.302+3A>G rs559190059 0.00001
NM_001002755.4(NFU1):c.303-18T>G rs769749096 0.00001
NM_001002755.4(NFU1):c.303-4G>A rs1001185238 0.00001
NM_001002755.4(NFU1):c.313A>C (p.Arg105=) rs569145992 0.00001
NM_001002755.4(NFU1):c.370-4A>G rs1673014101 0.00001
NM_001002755.4(NFU1):c.373A>G (p.Asn125Asp) rs769275443 0.00001
NM_001002755.4(NFU1):c.420A>T (p.Thr140=) rs768949114 0.00001
NM_001002755.4(NFU1):c.430T>G (p.Phe144Val) rs917257642 0.00001
NM_001002755.4(NFU1):c.544C>T (p.Arg182Trp) rs1354126704 0.00001
NM_001002755.4(NFU1):c.545+5G>A rs756085990 0.00001
NM_001002755.4(NFU1):c.545+7G>T rs750179976 0.00001
NM_001002755.4(NFU1):c.62+12G>A rs1180911781 0.00001
NM_001002755.4(NFU1):c.699G>A (p.Pro233=) rs200732109 0.00001
NM_001002755.4(NFU1):c.733G>A (p.Glu245Lys) rs1396495424 0.00001
NC_000002.11:g.(?_69627476)_(69627690_?)dup
NFU1, 55.6-KB DEL, EX4-8DEL
NM_001002755.2(NFU1):c.-41C>T rs775615702
NM_001002755.2(NFU1):c.-48G>A rs886056268
NM_001002755.4(NFU1):c.-7G>A rs1208588409
NM_001002755.4(NFU1):c.107C>T (p.Pro36Leu) rs1313353490
NM_001002755.4(NFU1):c.166+3A>G rs777633945
NM_001002755.4(NFU1):c.189A>G (p.Thr63=)
NM_001002755.4(NFU1):c.199C>G (p.Pro67Ala) rs1673344140
NM_001002755.4(NFU1):c.19C>A (p.Arg7=) rs2466468736
NM_001002755.4(NFU1):c.207A>G (p.Pro69=) rs2466398835
NM_001002755.4(NFU1):c.264del (p.Thr90fs)
NM_001002755.4(NFU1):c.287G>A (p.Arg96His) rs774308958
NM_001002755.4(NFU1):c.290C>G (p.Ser97Cys) rs1212890278
NM_001002755.4(NFU1):c.294T>A (p.Pro98=)
NM_001002755.4(NFU1):c.302+15dup rs1268809803
NM_001002755.4(NFU1):c.303-13dup rs372898848
NM_001002755.4(NFU1):c.303-19A>T rs141033711
NM_001002755.4(NFU1):c.324A>C (p.Gly108=) rs2466374710
NM_001002755.4(NFU1):c.332G>T (p.Ser111Ile) rs756434076
NM_001002755.4(NFU1):c.359C>A (p.Thr120Asn) rs1335827751
NM_001002755.4(NFU1):c.369+4A>C rs775249424
NM_001002755.4(NFU1):c.369+7A>T
NM_001002755.4(NFU1):c.370-4A>T rs1673014101
NM_001002755.4(NFU1):c.370-7T>C rs1673014175
NM_001002755.4(NFU1):c.370-8G>A rs2466349899
NM_001002755.4(NFU1):c.39T>G (p.Ala13=) rs2466468385
NM_001002755.4(NFU1):c.40G>C (p.Val14Leu)
NM_001002755.4(NFU1):c.484+7T>A rs2466348556
NM_001002755.4(NFU1):c.485-1G>C rs1464338870
NM_001002755.4(NFU1):c.485-20T>A rs574370963
NM_001002755.4(NFU1):c.485-8_485-5del rs769116545
NM_001002755.4(NFU1):c.495A>T (p.Glu165Asp) rs886056266
NM_001002755.4(NFU1):c.497A>G (p.Asp166Gly) rs757971255
NM_001002755.4(NFU1):c.498TGA[1] (p.Asp167del) rs2466302004
NM_001002755.4(NFU1):c.499G>A (p.Asp167Asn) rs2466302060
NM_001002755.4(NFU1):c.4G>A (p.Ala2Thr) rs750378027
NM_001002755.4(NFU1):c.507del (p.Val170fs)
NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln) rs1281276965
NM_001002755.4(NFU1):c.545G>T (p.Arg182Leu) rs1281276965
NM_001002755.4(NFU1):c.546-15del
NM_001002755.4(NFU1):c.546-16T>G rs750424685
NM_001002755.4(NFU1):c.546G>A (p.Arg182=) rs1401831965
NM_001002755.4(NFU1):c.565G>A (p.Gly189Arg) rs2104735490
NM_001002755.4(NFU1):c.581A>G (p.Tyr194Cys) rs1672488191
NM_001002755.4(NFU1):c.62+14C>G rs370979719
NM_001002755.4(NFU1):c.62+14C>T rs370979719
NM_001002755.4(NFU1):c.62+17G>C
NM_001002755.4(NFU1):c.62+89G>A
NM_001002755.4(NFU1):c.62G>C (p.Arg21Pro)
NM_001002755.4(NFU1):c.63-4G>A rs2466440629
NM_001002755.4(NFU1):c.68G>A (p.Cys23Tyr) rs750469296
NM_001002755.4(NFU1):c.69T>C (p.Cys23=) rs2104814012
NM_001002755.4(NFU1):c.721-8G>C rs1672329270
NM_001002755.4(NFU1):c.84T>A (p.Asn28Lys) rs1673654615
NM_001002755.4(NFU1):c.86C>T (p.Pro29Leu) rs2466440231
NM_001002755.4(NFU1):c.8C>G (p.Ala3Gly) rs975310478

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.