ClinVar Miner

List of variants studied for inborn mitochondrial metabolism disorder by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (412):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 89
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) rs11558436 0.00480
NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys) rs139626312 0.00311
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_012123.4(MTO1):c.1129+246G>A rs118010902 0.00049
NM_005932.4(MIPEP):c.1670T>C (p.Met557Thr) rs139684349 0.00031
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_002693.3(POLG):c.460G>A (p.Ala154Thr) rs753858440 0.00009
NM_078470.6(COX15):c.532C>T (p.Arg178Cys) rs192078749 0.00008
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610 0.00006
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr) rs369100772 0.00005
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_007103.4(NDUFV1):c.670C>T (p.Arg224Cys) rs138583785 0.00004
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu) rs920672041 0.00003
NM_016035.5(COQ4):c.304C>T (p.Arg102Cys) rs371984550 0.00003
NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del) rs754586219 0.00002
NM_005932.4(MIPEP):c.1679G>A (p.Arg560His) rs753252850 0.00002
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile) rs1373473541 0.00002
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn) rs563130304 0.00002
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys) rs767150990 0.00002
NM_020442.6(VARS2):c.104A>G (p.His35Arg) rs199534441 0.00002
NM_025152.3(NUBPL):c.625A>T (p.Thr209Ser) rs554414788 0.00002
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049 0.00001
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp) rs1298056442 0.00001
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His) rs747359752 0.00001
NM_002693.3(POLG):c.13C>T (p.Leu5Phe) rs761648850 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004493.3(HSD17B10):c.253G>A (p.Val85Met) rs1211736877 0.00001
NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln) rs771783839 0.00001
NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe) rs759274620 0.00001
NM_016035.5(COQ4):c.458C>T (p.Ala153Val) rs757173567 0.00001
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln) rs770654508 0.00001
NM_020191.4(MRPS22):c.508C>T (p.Arg170Cys) rs948280864 0.00001
NM_213649.2(SFXN4):c.940C>T (p.Gln314Ter) rs1156283736 0.00001
NC_012920.1(MT-CO3):m.9804G>A rs200613617
NC_012920.1(MT-ND4):m.11467A>G rs2853493
NC_012920.1(MT-ND5):m.12372G>A rs2853499
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser) rs138966725
NM_000183.3(HADHB):c.694G>A (p.Ala232Thr) rs987203346
NM_000183.3(HADHB):c.901G>C (p.Gly301Arg) rs891954464
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000925.4(PDHB):c.962C>T (p.Pro321Leu) rs1576955015
NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile) rs376624048
NM_001083614.2(EARS2):c.790C>G (p.Leu264Val) rs1555503379
NM_001277062.2(MFF):c.337C>A (p.Pro113Thr) rs1414317381
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs) rs1554215986
NM_001370595.2(COA8):c.41dup (p.Leu15fs) rs759966247
NM_001370595.2(COA8):c.476+1G>A rs900628637
NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr) rs1553249704
NM_001377299.1(NDUFS2):c.934G>C (p.Asp312His) rs1482687384
NM_002496.4(NDUFS8):c.484G>A (p.Val162Met) rs1277027467
NM_003172.4(SURF1):c.794_795dup (p.Thr266fs) rs1588688823
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224
NM_003850.3(SUCLA2):c.751G>A (p.Asp251Asn) rs397515462
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val) rs1555256440
NM_004168.4(SDHA):c.1794+105dup rs1561011159
NM_006796.3(AFG3L2):c.1164+1G>A rs1598832526
NM_007103.4(NDUFV1):c.731A>T (p.Asn244Ile) rs1235686151
NM_012123.4(MTO1):c.97del (p.Arg33fs) rs1582666067
NM_014049.5(ACAD9):c.959-3C>G rs1553731751
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016138.5(COQ7):c.9C>A (p.Cys3Ter) rs369616615
NM_017547.4(FOXRED1):c.209G>C (p.Gly70Ala) rs1950986906
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser) rs1555065162
NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala) rs536400690
NM_018060.4(IARS2):c.1504A>C (p.Ile502Leu) rs747014267
NM_018122.5(DARS2):c.20T>A (p.Leu7Ter) rs1553200766
NM_020247.5(COQ8A):c.1396del (p.Glu466fs) rs1553280621
NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs) rs782439454
NM_020442.6(VARS2):c.1637A>T (p.Glu546Val) rs761726567
NM_020442.6(VARS2):c.3020A>G (p.Gln1007Arg) rs773482888
NM_020442.6(VARS2):c.3098C>T (p.Ser1033Phe) rs1562465419
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val) rs1590020571
NM_022915.5(MRPL44):c.800T>A (p.Leu267Ter) rs1574796091
NM_024537.4(CARS2):c.1629A>C (p.Arg543Ser) rs1594195081
NM_024678.6(NARS2):c.10del (p.Val4fs) rs1555047651
NM_024678.6(NARS2):c.1306C>G (p.Arg436Gly) rs751383065
NM_024996.7(GFM1):c.395A>C (p.Glu132Ala) rs1553847587
NM_025152.3(NUBPL):c.265G>A (p.Ala89Thr) rs1595283708
NM_025215.6(PUS1):c.813del (p.Phe272fs) rs1566148136
NM_080916.3(DGUOK):c.155C>G (p.Ser52Cys) rs1204316787
NM_138395.4(MARS2):c.341G>T (p.Cys114Phe) rs1574775353
NM_138395.4(MARS2):c.799C>T (p.Pro267Ser) rs1574775779
NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val) rs762620949
NM_181705.4(LYRM7):c.214C>G (p.Gln72Glu) rs869025604
NM_182476.3(COQ6):c.1256A>C (p.His419Pro) rs1180320611

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.