ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency by Baylor Genetics

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 296
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HGVS dbSNP gnomAD frequency
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg) rs141184379 0.00297
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser) rs139372744 0.00220
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys) rs187662524 0.00146
NM_006567.5(FARS2):c.506A>T (p.Asp169Val) rs146356199 0.00141
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_033109.5(PNPT1):c.688G>C (p.Glu230Gln) rs34928857 0.00131
NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys) rs138855624 0.00129
NM_001083614.2(EARS2):c.263C>A (p.Ala88Glu) rs201929423 0.00118
NM_005932.4(MIPEP):c.2045G>A (p.Gly682Asp) rs150308123 0.00111
NM_033109.5(PNPT1):c.412A>G (p.Ile138Val) rs76401964 0.00111
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln) rs112070421 0.00094
NM_017909.4(RMND1):c.1085G>A (p.Arg362His) rs142588921 0.00091
NM_005932.4(MIPEP):c.40G>A (p.Ala14Thr) rs367730807 0.00074
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_024678.6(NARS2):c.640C>A (p.Pro214Thr) rs140016209 0.00069
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866 0.00067
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_020810.3(TRMT5):c.-2G>A rs147780353 0.00058
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_006567.5(FARS2):c.971A>G (p.Tyr324Cys) rs142073519 0.00052
NM_024537.4(CARS2):c.540T>G (p.Ile180Met) rs145988159 0.00049
NM_017646.6(TRIT1):c.16G>A (p.Ala6Thr) rs138415849 0.00046
NM_020745.4(AARS2):c.533C>T (p.Ala178Val) rs200343365 0.00043
NM_024678.6(NARS2):c.606_607insAGC (p.Lys202_Leu203insSer) rs762191692 0.00043
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00042
NM_005726.6(TSFM):c.688G>T (p.Val230Leu) rs151248026 0.00041
NM_145691.4(ATPAF2):c.40C>G (p.Arg14Gly) rs143241583 0.00040
NM_033109.5(PNPT1):c.1676C>G (p.Ala559Gly) rs149843729 0.00038
NM_024537.4(CARS2):c.1331C>T (p.Pro444Leu) rs151097801 0.00033
NM_024537.4(CARS2):c.563C>T (p.Thr188Met) rs142034206 0.00030
NM_020442.6(VARS2):c.2624C>T (p.Pro875Leu) rs376070793 0.00028
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp) rs146503501 0.00028
NM_007208.4(MRPL3):c.862T>C (p.Ser288Pro) rs143788120 0.00027
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633 0.00025
NM_139242.4(MTFMT):c.34C>A (p.Pro12Thr) rs933296601 0.00021
NM_020745.4(AARS2):c.1157C>T (p.Ala386Val) rs143271585 0.00019
NM_032380.5(GFM2):c.1040T>C (p.Met347Thr) rs774464063 0.00017
NM_006567.5(FARS2):c.1268G>A (p.Arg423Gln) rs148921184 0.00016
NM_020442.6(VARS2):c.1954C>T (p.Arg652Trp) rs148448090 0.00015
NM_023936.2(MRPS34):c.322-10G>A rs563189672 0.00015
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser) rs144972972 0.00013
NM_022915.5(MRPL44):c.791C>G (p.Thr264Ser) rs141166571 0.00013
NM_024537.4(CARS2):c.1448T>G (p.Leu483Trp) rs766266851 0.00013
NM_020442.6(VARS2):c.736T>C (p.Cys246Arg) rs140184279 0.00011
NM_024996.7(GFM1):c.689+908G>A rs751069628 0.00011
NM_020442.6(VARS2):c.3005G>A (p.Arg1002Gln) rs767441762 0.00010
NM_024537.4(CARS2):c.9G>T (p.Arg3Ser) rs766060435 0.00010
NM_024678.6(NARS2):c.847A>G (p.Thr283Ala) rs549442380 0.00010
NM_145691.4(ATPAF2):c.802G>A (p.Ala268Thr) rs368477064 0.00010
NM_001206427.2(ATP5MK):c.59A>G (p.Asn20Ser) rs140938014 0.00009
NM_020745.4(AARS2):c.679G>A (p.Asp227Asn) rs765016818 0.00009
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_020745.4(AARS2):c.2266C>T (p.Arg756Cys) rs753324375 0.00007
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) rs200105202 0.00007
NM_005932.4(MIPEP):c.1708G>A (p.Ala570Thr) rs202147615 0.00006
NM_017646.6(TRIT1):c.289G>A (p.Asp97Asn) rs766087007 0.00006
NM_020442.6(VARS2):c.3092T>G (p.Leu1031Arg) rs201946203 0.00006
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NM_033109.5(PNPT1):c.493C>T (p.Pro165Ser) rs151166046 0.00006
NM_139242.4(MTFMT):c.419+3A>G rs182623063 0.00006
NM_024996.7(GFM1):c.850C>T (p.Arg284Ter) rs771890880 0.00005
NM_004046.6(ATP5F1A):c.295T>C (p.Ser99Pro) rs745896289 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_005932.4(MIPEP):c.1090G>A (p.Val364Met) rs780905427 0.00004
NM_005932.4(MIPEP):c.1526G>A (p.Arg509His) rs369521380 0.00004
NM_006567.5(FARS2):c.461C>T (p.Ala154Val) rs749588235 0.00004
NM_006567.5(FARS2):c.497C>T (p.Ala166Val) rs538791135 0.00004
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter) rs775623164 0.00004
NM_012123.4(MTO1):c.1222A>G (p.Ile408Val) rs149407452 0.00004
NM_017646.6(TRIT1):c.1214T>C (p.Ile405Thr) rs776537579 0.00004
NM_020442.6(VARS2):c.142C>G (p.Gln48Glu) rs750590170 0.00004
NM_020442.6(VARS2):c.2038-1G>A rs769768815 0.00004
NM_020442.6(VARS2):c.2501G>A (p.Arg834His) rs747564856 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_003321.5(TUFM):c.1348A>G (p.Lys450Glu) rs199674838 0.00003
NM_005726.6(TSFM):c.161G>A (p.Arg54Gln) rs202213736 0.00003
NM_020745.4(AARS2):c.2561G>A (p.Arg854His) rs751611980 0.00003
NM_033109.5(PNPT1):c.1121T>C (p.Val374Ala) rs377657203 0.00003
NM_001083614.2(EARS2):c.1352G>T (p.Gly451Val) rs201181229 0.00002
NM_001083614.2(EARS2):c.913G>A (p.Asp305Asn) rs368574794 0.00002
NM_017909.4(RMND1):c.1318-11T>C rs765780346 0.00002
NM_020191.4(MRPS22):c.137T>C (p.Met46Thr) rs1467055834 0.00002
NM_020408.6(LYRM4):c.172A>G (p.Lys58Glu) rs759132658 0.00002
NM_020442.6(VARS2):c.275A>G (p.Glu92Gly) rs767695626 0.00002
NM_024678.6(NARS2):c.141+5G>C rs766606763 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.521A>G (p.Asn174Ser) rs119470018 0.00002
NM_024996.7(GFM1):c.661C>T (p.Arg221Ter) rs780762234 0.00002
NM_025150.5(TARS2):c.1207G>A (p.Ala403Thr) rs587685186 0.00002
NM_032380.5(GFM2):c.200T>C (p.Ile67Thr) rs181900110 0.00002
NM_145691.4(ATPAF2):c.713G>A (p.Arg238His) rs770015610 0.00002
NM_001083614.2(EARS2):c.417_418del (p.Cys140fs) rs767857970 0.00001
NM_001083614.2(EARS2):c.43T>C (p.Ser15Pro) rs755022102 0.00001
NM_003321.5(TUFM):c.100C>G (p.Leu34Val) rs760020885 0.00001
NM_005726.6(TSFM):c.403C>T (p.Gln135Ter) rs751169823 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_005932.4(MIPEP):c.1354A>C (p.Ile452Leu) rs756060769 0.00001
NM_006567.5(FARS2):c.515T>C (p.Leu172Pro) rs754132045 0.00001
NM_012123.4(MTO1):c.82G>A (p.Asp28Asn) rs780242649 0.00001
NM_015971.4(MRPS7):c.508-1G>A rs372546274 0.00001
NM_017909.4(RMND1):c.1039G>A (p.Glu347Lys) rs778086286 0.00001
NM_017909.4(RMND1):c.530C>T (p.Ala177Val) rs1261711776 0.00001
NM_020442.6(VARS2):c.1400G>A (p.Arg467His) rs775439829 0.00001
NM_020442.6(VARS2):c.2684G>A (p.Arg895His) rs570231965 0.00001
NM_020442.6(VARS2):c.631C>T (p.Arg211Trp) rs544609783 0.00001
NM_020745.4(AARS2):c.2146-2A>G rs368934219 0.00001
NM_024537.4(CARS2):c.1377G>C (p.Gln459His) rs1047045222 0.00001
NM_024678.6(NARS2):c.1303C>T (p.Arg435Cys) rs1481123553 0.00001
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.1221+20G>A rs1412836196 0.00001
NM_024996.7(GFM1):c.1596del (p.Val533fs) rs761095873 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.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_032620.4(GTPBP3):c.1409G>A (p.Arg470Gln) rs1228454692 0.00001
NM_032620.4(GTPBP3):c.188G>A (p.Arg63Gln) rs1404625905 0.00001
NM_213649.2(SFXN4):c.410C>T (p.Pro137Leu) rs377410779 0.00001
NM_213649.2(SFXN4):c.649C>T (p.Arg217Ter) rs756173225 0.00001
NM_001083614.2(EARS2):c.1015G>T (p.Val339Phe)
NM_001083614.2(EARS2):c.1351G>A (p.Gly451Arg) rs767133394
NM_001083614.2(EARS2):c.1488+16G>A
NM_001083614.2(EARS2):c.745G>C (p.Glu249Gln) rs1965392345
NM_001136193.2(FASTKD2):c.1796C>T (p.Pro599Leu)
NM_003321.5(TUFM):c.562G>A (p.Ala188Thr) rs1167098942
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004208.4(AIFM1):c.147G>C (p.Gln49His) rs867606904
NM_004208.4(AIFM1):c.1596T>A (p.Ser532Arg)
NM_005035.4(POLRMT):c.1291-9C>A
NM_005035.4(POLRMT):c.1340G>A (p.Arg447Gln)
NM_005035.4(POLRMT):c.1378G>C (p.Val460Leu)
NM_005035.4(POLRMT):c.1627-3C>T
NM_005035.4(POLRMT):c.2002A>C (p.Thr668Pro)
NM_005035.4(POLRMT):c.2029G>A (p.Ala677Thr)
NM_005035.4(POLRMT):c.2131G>C (p.Gly711Arg)
NM_005035.4(POLRMT):c.232G>A (p.Val78Met)
NM_005035.4(POLRMT):c.2511C>G (p.Gly837=)
NM_005035.4(POLRMT):c.757C>T (p.Arg253Trp)
NM_005035.4(POLRMT):c.954-1G>C
NM_005726.6(TSFM):c.115dup (p.Arg39fs)
NM_005726.6(TSFM):c.139A>T (p.Lys47Ter)
NM_005726.6(TSFM):c.177_187del (p.Tyr59_Asn63delinsTer)
NM_005726.6(TSFM):c.223del (p.Leu75fs)
NM_005726.6(TSFM):c.231+1G>A
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.382del (p.Val128fs)
NM_005726.6(TSFM):c.399del (p.Lys133fs) rs1955600413
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.57+1G>A rs1403882425
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.74del (p.Arg25fs)
NM_005726.6(TSFM):c.76C>T (p.Gln26Ter) rs774870834
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.85C>T (p.Gln29Ter) rs2140413092
NM_005932.4(MIPEP):c.1008T>G (p.Phe336Leu) rs1870346695
NM_005932.4(MIPEP):c.1088G>T (p.Gly363Val) rs1870163153
NM_006567.5(FARS2):c.1345G>C (p.Gly449Arg)
NM_006567.5(FARS2):c.902C>T (p.Ser301Leu)
NM_006567.5(FARS2):c.988C>A (p.Arg330Ser) rs757442324
NM_007208.4(MRPL3):c.793T>C (p.Tyr265His)
NM_012123.4(MTO1):c.*7A>G
NM_012123.4(MTO1):c.-4C>T
NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu) rs141970072
NM_012123.4(MTO1):c.1393A>G (p.Met465Val) rs1000432861
NM_012123.4(MTO1):c.1637G>C (p.Arg546Thr)
NM_012123.4(MTO1):c.79A>T (p.Ser27Cys) rs1240435216
NM_012123.4(MTO1):c.982C>T (p.Arg328Cys)
NM_012473.4(TXN2):c.376A>G (p.Ile126Val) rs141470075
NM_016034.5(MRPS2):c.400C>T (p.His134Tyr) rs995894816
NM_016034.5(MRPS2):c.862C>A (p.Pro288Thr) rs1831230615
NM_016065.4(MRPS16):c.238G>A (p.Gly80Arg)
NM_017909.4(RMND1):c.1049T>C (p.Met350Thr) rs1582950315
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_017952.6(PTCD3):c.1571G>T (p.Arg524Leu)
NM_017952.6(PTCD3):c.1782A>G (p.Lys594=)
NM_017952.6(PTCD3):c.194G>C (p.Trp65Ser)
NM_018127.7(ELAC2):c.1908+1G>A rs1014558424
NM_018127.7(ELAC2):c.457del (p.Ile153fs) rs1567773277
NM_018127.7(ELAC2):c.595A>G (p.Ser199Gly) rs1693923229
NM_018127.7(ELAC2):c.893C>A (p.Thr298Asn)
NM_020191.4(MRPS22):c.318G>A (p.Met106Ile) rs973338617
NM_020191.4(MRPS22):c.874_875del (p.Asp292fs) rs775852045
NM_020442.6(VARS2):c.2869_2876dup (p.Leu961fs) rs1794789052
NM_020442.6(VARS2):c.842G>A (p.Cys281Tyr)
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del) rs562829310
NM_020745.4(AARS2):c.472C>A (p.Gln158Lys) rs759138272
NM_020745.4(AARS2):c.647dup (p.Cys218fs) rs587777589
NM_020745.4(AARS2):c.649C>T (p.Pro217Ser) rs1786310363
NM_020810.3(TRMT5):c.171C>G (p.Phe57Leu) rs978146113
NM_024537.4(CARS2):c.1684_1685insA (p.Ser562fs) rs1887287265
NM_024678.6(NARS2):c.436A>G (p.Arg146Gly) rs1856737824
NM_024996.7(GFM1):c.1044_1056del (p.Asn349fs)
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.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.1404del (p.Gly469fs) rs779877297
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.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.166_169dup (p.Ser57Ter) rs752037355
NM_024996.7(GFM1):c.1765-2A>G rs2108102423
NM_024996.7(GFM1):c.1765-2_1765-1del rs1245712932
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.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.247_248del (p.Asp83fs) rs1721780124
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.408A>T (p.Arg136Ser) rs1721844379
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.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.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.754G>A (p.Glu252Lys)
NM_024996.7(GFM1):c.787C>T (p.Gln263Ter)
NM_024996.7(GFM1):c.817dup (p.Ile273fs)
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.914del (p.Gly305fs)
NM_024996.7(GFM1):c.929T>G (p.Leu310Ter)
NM_024996.7(GFM1):c.974del (p.Asn325fs)
NM_024996.7(GFM1):c.999-1G>C
NM_025150.5(TARS2):c.736C>T (p.Arg246Trp) rs763015481
NM_025150.5(TARS2):c.887A>G (p.Glu296Gly) rs1669673209
NM_032380.5(GFM2):c.2206A>G (p.Ile736Val)
NM_033109.5(PNPT1):c.1906+1G>A rs1695931094
NM_033109.5(PNPT1):c.2012A>T (p.Asp671Val) rs144252007
NM_033109.5(PNPT1):c.274C>G (p.Pro92Ala) rs750110394
NM_138395.4(MARS2):c.1032_1033del (p.Cys344fs) rs757731660
NM_138395.4(MARS2):c.494A>G (p.Tyr165Cys) rs756596155
NM_138395.4(MARS2):c.928A>G (p.Lys310Glu) rs771207265
NM_139242.4(MTFMT):c.1123AAG[2] (p.Lys377del) rs769122836
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu) rs397514614
NM_139242.4(MTFMT):c.460C>T (p.Arg154Cys) rs760793624
NM_139242.4(MTFMT):c.466C>T (p.Pro156Ser) rs2086395834
NM_145691.4(ATPAF2):c.480A>C (p.Pro160=) rs2044519018
NM_213649.2(SFXN4):c.930del (p.Ile310fs) rs1589625048

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