ClinVar Miner

List of variants in gene MTRR studied for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 774
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu) rs1532268 0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=) rs1802059 0.31218
NM_002454.3(MTRR):c.284-64C>G rs2303079 0.22681
NM_002454.3(MTRR):c.781-80G>A rs162035 0.22379
NM_002454.3(MTRR):c.537T>C (p.Leu179=) rs161870 0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg) rs162036 0.20973
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr) rs10380 0.18188
NM_002454.3(MTRR):c.1557+54T>C rs16879356 0.17987
NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys) rs2287780 0.04230
NM_002454.3(MTRR):c.1155G>A (p.Leu385=) rs2287779 0.04224
NM_002454.3(MTRR):c.903+518T>A rs77578255 0.03893
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg) rs16879334 0.03856
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr) rs2303080 0.03048
NM_002454.3(MTRR):c.1676+20A>G rs2303082 0.03042
NM_002454.3(MTRR):c.1536C>T (p.Ser512=) rs34172797 0.01824
NM_002454.3(MTRR):c.1464A>G (p.Val488=) rs35890938 0.01708
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=) rs6874544 0.01706
NM_002454.3(MTRR):c.1370+19G>A rs113005255 0.01540
NM_002454.3(MTRR):c.1653G>A (p.Pro551=) rs139206262 0.00700
NM_002454.3(MTRR):c.288C>T (p.Leu96=) rs35587995 0.00500
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala) rs41283145 0.00414
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile) rs114259126 0.00366
NM_002454.3(MTRR):c.876C>T (p.Thr292=) rs144724549 0.00341
NM_002454.3(MTRR):c.210C>G (p.Arg70=) rs41282641 0.00303
NM_002454.3(MTRR):c.1326C>T (p.Leu442=) rs144781389 0.00274
NM_002454.3(MTRR):c.857C>T (p.Thr286Met) rs79430644 0.00198
NM_002454.3(MTRR):c.1982A>G (p.His661Arg) rs148909799 0.00196
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser) rs114053717 0.00190
NM_002454.3(MTRR):c.177C>G (p.Thr59=) rs142098262 0.00147
NM_002454.3(MTRR):c.1544C>T (p.Ala515Val) rs16879355 0.00145
NM_002454.3(MTRR):c.144C>T (p.Thr48=) rs138612190 0.00120
NM_002454.3(MTRR):c.828G>A (p.Val276=) rs115289458 0.00120
NM_002454.3(MTRR):c.781-14A>G rs112996747 0.00104
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr) rs144899305 0.00096
NM_002454.3(MTRR):c.446C>T (p.Ala149Val) rs142714881 0.00077
NM_002454.3(MTRR):c.54C>T (p.Ile18=) rs6413426 0.00062
NM_002454.3(MTRR):c.1021G>A (p.Val341Ile) rs74790259 0.00059
NM_002454.3(MTRR):c.879T>C (p.Thr293=) rs773629167 0.00058
NM_002454.3(MTRR):c.1058-16G>A rs201644712 0.00056
NM_002454.3(MTRR):c.540G>A (p.Val180=) rs149037732 0.00046
NM_002454.3(MTRR):c.958A>G (p.Ser320Gly) rs199762141 0.00044
NM_002454.3(MTRR):c.1182C>G (p.Asp394Glu) rs149678769 0.00041
NM_002454.3(MTRR):c.1777C>T (p.Leu593Phe) rs146415045 0.00039
NM_002454.3(MTRR):c.906T>C (p.Asn302=) rs144729918 0.00025
NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys) rs148414435 0.00023
NM_002454.3(MTRR):c.505G>A (p.Val169Met) rs147742177 0.00021
NM_002454.3(MTRR):c.904-4C>G rs370809675 0.00018
NM_002454.3(MTRR):c.463A>C (p.Arg155=) rs556611332 0.00016
NM_002454.3(MTRR):c.138A>G (p.Leu46=) rs200682655 0.00013
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys) rs138098668 0.00012
NM_002454.3(MTRR):c.198C>T (p.Pro66=) rs776410065 0.00011
NM_002454.3(MTRR):c.542A>G (p.Lys181Arg) rs996966324 0.00011
NM_002454.3(MTRR):c.1020C>T (p.Cys340=) rs201348649 0.00010
NM_002454.3(MTRR):c.904-19dup rs1554003810 0.00010
NM_002454.3(MTRR):c.1677-2dup rs747255318 0.00009
NM_002454.3(MTRR):c.1769+1G>A rs778738842 0.00009
NM_002454.3(MTRR):c.495C>T (p.Gly165=) rs139333376 0.00009
NM_002454.3(MTRR):c.1058-17C>T rs754619256 0.00008
NM_002454.3(MTRR):c.129+10G>A rs6413427 0.00008
NM_002454.3(MTRR):c.1676+3A>G rs369853875 0.00008
NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe) rs372106115 0.00007
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter) rs147277149 0.00007
NM_002454.3(MTRR):c.1998A>C (p.Gln666His) rs767507060 0.00007
NM_002454.3(MTRR):c.21A>G (p.Leu7=) rs114427781 0.00007
NM_002454.3(MTRR):c.519A>G (p.Ala173=) rs776844185 0.00007
NM_002454.3(MTRR):c.903+469T>C rs893229476 0.00007
NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu) rs769915505 0.00006
NM_002454.3(MTRR):c.1370+18C>T rs374485961 0.00006
NM_002454.3(MTRR):c.1537G>A (p.Gly513Arg) rs150411351 0.00006
NM_002454.3(MTRR):c.383A>G (p.His128Arg) rs185235284 0.00006
NM_002454.3(MTRR):c.952C>T (p.Pro318Ser) rs375421492 0.00006
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys) rs202110383 0.00005
NM_002454.3(MTRR):c.503C>T (p.Pro168Leu) rs757635349 0.00005
NM_002454.3(MTRR):c.1018T>G (p.Cys340Gly) rs1183944927 0.00004
NM_002454.3(MTRR):c.1095T>C (p.Ser365=) rs1490381537 0.00004
NM_002454.3(MTRR):c.1147-16G>A rs143842562 0.00004
NM_002454.3(MTRR):c.1165G>A (p.Val389Met) rs774333382 0.00004
NM_002454.3(MTRR):c.1362G>A (p.Ser454=) rs370978510 0.00004
NM_002454.3(MTRR):c.1557+18T>C rs367589908 0.00004
NM_002454.3(MTRR):c.1677-8C>T rs750976454 0.00004
NM_002454.3(MTRR):c.1677-9T>C rs200734299 0.00004
NM_002454.3(MTRR):c.1944T>C (p.Tyr648=) rs143418731 0.00004
NM_002454.3(MTRR):c.2073C>T (p.Arg691=) rs768387137 0.00004
NM_002454.3(MTRR):c.209G>A (p.Arg70His) rs777202031 0.00004
NM_002454.3(MTRR):c.27T>C (p.Ala9=) rs114748706 0.00004
NM_002454.3(MTRR):c.283+13C>G rs368391537 0.00004
NM_002454.3(MTRR):c.402-19G>A rs192942300 0.00004
NM_002454.3(MTRR):c.507G>C (p.Val169=) rs367609729 0.00004
NM_002454.3(MTRR):c.692C>T (p.Ser231Leu) rs201557658 0.00004
NM_002454.3(MTRR):c.1080A>C (p.Ile360=) rs969738618 0.00003
NM_002454.3(MTRR):c.1188T>C (p.Ala396=) rs763760088 0.00003
NM_002454.3(MTRR):c.1287C>T (p.Leu429=) rs551079367 0.00003
NM_002454.3(MTRR):c.1789C>A (p.Leu597Ile) rs755408035 0.00003
NM_002454.3(MTRR):c.208C>T (p.Arg70Cys) rs374239028 0.00003
NM_002454.3(MTRR):c.246G>C (p.Pro82=) rs149300444 0.00003
NM_002454.3(MTRR):c.268C>T (p.Arg90Trp) rs773984668 0.00003
NM_002454.3(MTRR):c.402-20C>T rs565590605 0.00003
NM_002454.3(MTRR):c.1057+9C>T rs752920631 0.00002
NM_002454.3(MTRR):c.1146+12T>C rs775452380 0.00002
NM_002454.3(MTRR):c.1216A>G (p.Ser406Gly) rs1239051004 0.00002
NM_002454.3(MTRR):c.1252C>T (p.Arg418Ter) rs777997657 0.00002
NM_002454.3(MTRR):c.129+20A>T rs758051759 0.00002
NM_002454.3(MTRR):c.1317T>C (p.Ser439=) rs756279354 0.00002
NM_002454.3(MTRR):c.1418T>C (p.Val473Ala) rs777447397 0.00002
NM_002454.3(MTRR):c.1563C>T (p.Ser521=) rs757184514 0.00002
NM_002454.3(MTRR):c.1575A>C (p.Arg525=) rs369430052 0.00002
NM_002454.3(MTRR):c.1591C>T (p.His531Tyr) rs767321681 0.00002
NM_002454.3(MTRR):c.1641C>T (p.Thr547=) rs1044675786 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_002454.3(MTRR):c.1769+14C>T rs760216011 0.00002
NM_002454.3(MTRR):c.1773A>G (p.Lys591=) rs760394620 0.00002
NM_002454.3(MTRR):c.1959A>G (p.Ala653=) rs763202690 0.00002
NM_002454.3(MTRR):c.280C>T (p.Leu94=) rs1383637211 0.00002
NM_002454.3(MTRR):c.317A>G (p.Asn106Ser) rs763568058 0.00002
NM_002454.3(MTRR):c.405A>C (p.Leu135Phe) rs754157293 0.00002
NM_002454.3(MTRR):c.459T>C (p.His153=) rs1485372093 0.00002
NM_002454.3(MTRR):c.766G>T (p.Glu256Ter) rs375908206 0.00002
NM_002454.3(MTRR):c.1035A>G (p.Ile345Met) rs140944718 0.00001
NM_002454.3(MTRR):c.1041A>G (p.Ala347=) rs1331838959 0.00001
NM_002454.3(MTRR):c.1057+7G>T rs767794040 0.00001
NM_002454.3(MTRR):c.1086G>A (p.Ala362=) rs750381895 0.00001
NM_002454.3(MTRR):c.1131A>C (p.Arg377=) rs1050662553 0.00001
NM_002454.3(MTRR):c.1135A>G (p.Ile379Val) rs746404785 0.00001
NM_002454.3(MTRR):c.1136T>G (p.Ile379Ser) rs1243456483 0.00001
NM_002454.3(MTRR):c.1147-6T>C rs781413511 0.00001
NM_002454.3(MTRR):c.1147-8T>C rs961118885 0.00001
NM_002454.3(MTRR):c.1149A>G (p.Ala383=) rs748418818 0.00001
NM_002454.3(MTRR):c.1156C>T (p.Arg386Ter) rs1421007019 0.00001
NM_002454.3(MTRR):c.1179T>C (p.Ser393=) rs1333791112 0.00001
NM_002454.3(MTRR):c.1227G>A (p.Gly409=) rs1250182164 0.00001
NM_002454.3(MTRR):c.1239T>C (p.Tyr413=) rs755507944 0.00001
NM_002454.3(MTRR):c.123C>T (p.Ser41=) rs759379396 0.00001
NM_002454.3(MTRR):c.1253G>A (p.Arg418Gln) rs749461781 0.00001
NM_002454.3(MTRR):c.1257T>C (p.Asp419=) rs1292824472 0.00001
NM_002454.3(MTRR):c.1266C>T (p.Ala422=) rs981600908 0.00001
NM_002454.3(MTRR):c.127A>G (p.Lys43Glu) rs937595017 0.00001
NM_002454.3(MTRR):c.130-12C>G rs764724859 0.00001
NM_002454.3(MTRR):c.1311A>G (p.Pro437=) rs755561250 0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 0.00001
NM_002454.3(MTRR):c.1371-10A>G rs368498814 0.00001
NM_002454.3(MTRR):c.13C>T (p.Leu5=) rs763313419 0.00001
NM_002454.3(MTRR):c.1443A>G (p.Thr481=) rs1359474445 0.00001
NM_002454.3(MTRR):c.1527T>C (p.His509=) rs1483514424 0.00001
NM_002454.3(MTRR):c.1533C>T (p.Asp511=) rs1269324233 0.00001
NM_002454.3(MTRR):c.1546C>T (p.Leu516=) rs1268958481 0.00001
NM_002454.3(MTRR):c.1554_1557+3del rs754619743 0.00001
NM_002454.3(MTRR):c.1574G>A (p.Arg525Gln) rs1343250131 0.00001
NM_002454.3(MTRR):c.1593C>T (p.His531=) rs778082216 0.00001
NM_002454.3(MTRR):c.1597C>T (p.Pro533Ser) rs771421325 0.00001
NM_002454.3(MTRR):c.1602T>C (p.Asp534=) rs1738404887 0.00001
NM_002454.3(MTRR):c.1666C>T (p.Leu556=) rs762466500 0.00001
NM_002454.3(MTRR):c.1676+10T>C rs757713803 0.00001
NM_002454.3(MTRR):c.1677-6A>G rs780299669 0.00001
NM_002454.3(MTRR):c.1727T>G (p.Leu576Trp) rs771123203 0.00001
NM_002454.3(MTRR):c.1764A>G (p.Leu588=) rs766927577 0.00001
NM_002454.3(MTRR):c.1769+8A>G rs892239997 0.00001
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter) rs1293600145 0.00001
NM_002454.3(MTRR):c.1791T>C (p.Leu597=) rs767659059 0.00001
NM_002454.3(MTRR):c.1844T>C (p.Val615Ala) rs1318949494 0.00001
NM_002454.3(MTRR):c.1857A>G (p.Glu619=) rs1416687292 0.00001
NM_002454.3(MTRR):c.1869G>A (p.Lys623=) rs768364684 0.00001
NM_002454.3(MTRR):c.1883A>G (p.Asn628Ser) rs144020429 0.00001
NM_002454.3(MTRR):c.1890G>A (p.Gln630=) rs9282786 0.00001
NM_002454.3(MTRR):c.1917C>A (p.Ile639=) rs778699591 0.00001
NM_002454.3(MTRR):c.1952+14G>A rs557018438 0.00001
NM_002454.3(MTRR):c.1992T>C (p.Leu664=) rs375588388 0.00001
NM_002454.3(MTRR):c.2031A>G (p.Leu677=) rs367590648 0.00001
NM_002454.3(MTRR):c.2052C>T (p.Ala684=) rs1427160228 0.00001
NM_002454.3(MTRR):c.2076C>T (p.Tyr692=) rs984089159 0.00001
NM_002454.3(MTRR):c.230del (p.Gln77fs) rs1408257020 0.00001
NM_002454.3(MTRR):c.303C>T (p.Tyr101=) rs1748681766 0.00001
NM_002454.3(MTRR):c.313T>G (p.Cys105Gly) rs1484416611 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_002454.3(MTRR):c.378T>C (p.Thr126=) rs577851734 0.00001
NM_002454.3(MTRR):c.399A>G (p.Val133=) rs560392566 0.00001
NM_002454.3(MTRR):c.39A>G (p.Gly13=) rs752509731 0.00001
NM_002454.3(MTRR):c.401+10G>A rs760026002 0.00001
NM_002454.3(MTRR):c.401+1G>A rs1400065323 0.00001
NM_002454.3(MTRR):c.401+9A>G rs376866907 0.00001
NM_002454.3(MTRR):c.423G>A (p.Pro141=) rs753947379 0.00001
NM_002454.3(MTRR):c.432T>G (p.Ala144=) rs116439533 0.00001
NM_002454.3(MTRR):c.477A>G (p.Gly159=) rs1270504511 0.00001
NM_002454.3(MTRR):c.487A>G (p.Ile163Val) rs886060804 0.00001
NM_002454.3(MTRR):c.498A>G (p.Ala166=) rs747865209 0.00001
NM_002454.3(MTRR):c.504G>A (p.Pro168=) rs746183496 0.00001
NM_002454.3(MTRR):c.527G>C (p.Arg176Thr) rs1182297284 0.00001
NM_002454.3(MTRR):c.52A>G (p.Ile18Val) rs753325140 0.00001
NM_002454.3(MTRR):c.588C>T (p.Phe196=) rs776897289 0.00001
NM_002454.3(MTRR):c.589G>C (p.Asp197His) rs748186027 0.00001
NM_002454.3(MTRR):c.594T>C (p.Asp198=) rs773514527 0.00001
NM_002454.3(MTRR):c.612T>C (p.Ser204=) rs374670570 0.00001
NM_002454.3(MTRR):c.703C>T (p.Leu235Phe) rs1238722351 0.00001
NM_002454.3(MTRR):c.708A>G (p.Ser236=) rs372700667 0.00001
NM_002454.3(MTRR):c.735A>C (p.Leu245Phe) rs1343821146 0.00001
NM_002454.3(MTRR):c.744A>G (p.Glu248=) rs749341418 0.00001
NM_002454.3(MTRR):c.763C>T (p.Gln255Ter) rs1353165398 0.00001
NM_002454.3(MTRR):c.780+20T>C rs563392085 0.00001
NM_002454.3(MTRR):c.807A>G (p.Ser269=) rs1348478237 0.00001
NM_002454.3(MTRR):c.832A>G (p.Ile278Val) rs1377146830 0.00001
NM_002454.3(MTRR):c.84A>G (p.Val28=) rs1045121482 0.00001
NM_002454.3(MTRR):c.863A>G (p.Asp288Gly) rs766083570 0.00001
NM_002454.3(MTRR):c.903+19T>A rs930028739 0.00001
NM_002454.3(MTRR):c.904-10del rs1467919139 0.00001
NM_002454.3(MTRR):c.936C>T (p.Ala312=) rs777075473 0.00001
NM_002454.3(MTRR):c.942C>T (p.Ser314=) rs770336060 0.00001
MTRR, 4-BP DEL, NT1675
NC_000005.10:g.(?_7869114)_(7900078_?)del
NC_000005.10:g.(?_7877934)_(7878332_?)del
NC_000005.10:g.(?_7883145)_(7892923_?)del
NC_000005.9:g.(?_7870908)_(7871056_?)del
NC_000005.9:g.(?_7870908)_(7900171_?)del
NC_000005.9:g.(?_7870908)_(7900171_?)dup
NC_000005.9:g.(?_7875361)_(7875498_?)del
NC_000005.9:g.(?_7889198)_(7897370_?)del
NC_000005.9:g.(?_7895827)_(7900171_?)dup
NM_002454.3(MTRR):c.-26+755C>A rs326119
NM_002454.3(MTRR):c.1015C>G (p.His339Asp)
NM_002454.3(MTRR):c.1016A>G (p.His339Arg)
NM_002454.3(MTRR):c.1020C>A (p.Cys340Ter)
NM_002454.3(MTRR):c.1026T>G (p.Leu342=)
NM_002454.3(MTRR):c.1029G>A (p.Leu343=)
NM_002454.3(MTRR):c.102T>C (p.Asp34=)
NM_002454.3(MTRR):c.1032A>G (p.Lys344=)
NM_002454.3(MTRR):c.1041A>C (p.Ala347=) rs1331838959
NM_002454.3(MTRR):c.1047_1049del (p.Lys352del)
NM_002454.3(MTRR):c.1048_1049del (p.Lys350fs) rs2126745614
NM_002454.3(MTRR):c.1049_1052del (p.Lys350fs) rs2126745648
NM_002454.3(MTRR):c.1056A>C (p.Lys352Asn)
NM_002454.3(MTRR):c.1057+12G>A
NM_002454.3(MTRR):c.1057+17T>C
NM_002454.3(MTRR):c.1057+8C>G rs1325906968
NM_002454.3(MTRR):c.1057+8C>T
NM_002454.3(MTRR):c.1057+9_1057+16del
NM_002454.3(MTRR):c.1058-5A>C rs2126751043
NM_002454.3(MTRR):c.1058-8del rs1736476987
NM_002454.3(MTRR):c.1058-9C>T rs1736476286
NM_002454.3(MTRR):c.1058G>A (p.Gly353Glu)
NM_002454.3(MTRR):c.1063A>G (p.Thr355Ala)
NM_002454.3(MTRR):c.1066T>C (p.Leu356=) rs2126751152
NM_002454.3(MTRR):c.106C>T (p.His36Tyr)
NM_002454.3(MTRR):c.1070C>T (p.Pro357Leu) rs2126751184
NM_002454.3(MTRR):c.1071C>T (p.Pro357=)
NM_002454.3(MTRR):c.1073A>G (p.Gln358Arg) rs776598893
NM_002454.3(MTRR):c.1074G>A (p.Gln358=) rs1561229685
NM_002454.3(MTRR):c.1075C>T (p.His359Tyr) rs1405292334
NM_002454.3(MTRR):c.1077T>C (p.His359=)
NM_002454.3(MTRR):c.1083T>C (p.Pro361=) rs1405600544
NM_002454.3(MTRR):c.1089A>G (p.Gly363=) rs1561230017
NM_002454.3(MTRR):c.108C>T (p.His36=)
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del) rs796052001
NM_002454.3(MTRR):c.109dup (p.Cys37fs) rs1747853230
NM_002454.3(MTRR):c.1113C>T (p.Thr371=)
NM_002454.3(MTRR):c.1123G>T (p.Glu375Ter) rs772547714
NM_002454.3(MTRR):c.1125A>G (p.Glu375=) rs1425446891
NM_002454.3(MTRR):c.1129C>T (p.Arg377Ter)
NM_002454.3(MTRR):c.1140T>C (p.Pro380=)
NM_002454.3(MTRR):c.1144A>G (p.Lys382Glu)
NM_002454.3(MTRR):c.1146+10del rs750264866
NM_002454.3(MTRR):c.1146+10dup rs750264866
NM_002454.3(MTRR):c.1146+13G>T
NM_002454.3(MTRR):c.1146+19T>G
NM_002454.3(MTRR):c.1146+1G>C rs772608494
NM_002454.3(MTRR):c.1146+3A>G
NM_002454.3(MTRR):c.1147-11C>G rs1015760904
NM_002454.3(MTRR):c.1147-14G>A rs9282791
NM_002454.3(MTRR):c.1147-14G>T
NM_002454.3(MTRR):c.1147-15G>T
NM_002454.3(MTRR):c.1147-17C>T
NM_002454.3(MTRR):c.1155_1156delinsAT (p.Arg386Ter) rs1737110583
NM_002454.3(MTRR):c.1163_1188del (p.Leu388fs) rs1561245416
NM_002454.3(MTRR):c.1175C>T (p.Thr392Ile)
NM_002454.3(MTRR):c.1182C>T (p.Asp394=)
NM_002454.3(MTRR):c.1183_1184del (p.Ser395fs) rs1579758005
NM_002454.3(MTRR):c.1203A>G (p.Leu401=) rs200661044
NM_002454.3(MTRR):c.1209G>A (p.Glu403=) rs1324764527
NM_002454.3(MTRR):c.120A>C (p.Glu40Asp)
NM_002454.3(MTRR):c.1212G>T (p.Leu404=) rs2126771253
NM_002454.3(MTRR):c.1219A>T (p.Lys407Ter)
NM_002454.3(MTRR):c.1221A>G (p.Lys407=) rs2126771342
NM_002454.3(MTRR):c.1230A>C (p.Ala410=) rs2126771427
NM_002454.3(MTRR):c.1233C>G (p.Ala411=) rs752174231
NM_002454.3(MTRR):c.1233C>T (p.Ala411=) rs752174231
NM_002454.3(MTRR):c.1248T>C (p.Phe416=) rs886060807
NM_002454.3(MTRR):c.1251A>C (p.Val417=)
NM_002454.3(MTRR):c.1253G>C (p.Arg418Pro)
NM_002454.3(MTRR):c.1260C>G (p.Ala420=) rs774102072
NM_002454.3(MTRR):c.1260C>T (p.Ala420=) rs774102072
NM_002454.3(MTRR):c.1272G>A (p.Leu424=)
NM_002454.3(MTRR):c.129+10G>C rs6413427
NM_002454.3(MTRR):c.129+11T>C
NM_002454.3(MTRR):c.129+12T>C
NM_002454.3(MTRR):c.129+13A>T
NM_002454.3(MTRR):c.129+14C>G
NM_002454.3(MTRR):c.129+15A>G
NM_002454.3(MTRR):c.129+20A>C
NM_002454.3(MTRR):c.129+7G>A
NM_002454.3(MTRR):c.129+9C>T rs527869420
NM_002454.3(MTRR):c.1290T>C (p.Ala430=) rs2126772061
NM_002454.3(MTRR):c.1293C>T (p.Phe431=) rs766885971
NM_002454.3(MTRR):c.130-14T>C
NM_002454.3(MTRR):c.130-17A>T
NM_002454.3(MTRR):c.130-18G>A
NM_002454.3(MTRR):c.130-1G>A
NM_002454.3(MTRR):c.130-20T>G
NM_002454.3(MTRR):c.130-4G>A rs201823283
NM_002454.3(MTRR):c.1314C>T (p.Leu438=)
NM_002454.3(MTRR):c.1314_1315insCTGCCAGCCACCACTC (p.Ser439fs) rs2126772123
NM_002454.3(MTRR):c.1327+10C>G rs757398819
NM_002454.3(MTRR):c.1327+10C>T rs757398819
NM_002454.3(MTRR):c.1327+11G>A
NM_002454.3(MTRR):c.1327+19A>G
NM_002454.3(MTRR):c.1327+1G>A
NM_002454.3(MTRR):c.1327+20A>G
NM_002454.3(MTRR):c.1327+8G>A
NM_002454.3(MTRR):c.1328-12A>G
NM_002454.3(MTRR):c.1328-13T>A
NM_002454.3(MTRR):c.1328-13T>C
NM_002454.3(MTRR):c.1328-4C>G rs747003266
NM_002454.3(MTRR):c.1328-4C>T rs747003266
NM_002454.3(MTRR):c.1328-6T>G
NM_002454.3(MTRR):c.1328-7_1328-5del rs779772153
NM_002454.3(MTRR):c.1328-8T>C
NM_002454.3(MTRR):c.132T>A (p.Tyr44Ter)
NM_002454.3(MTRR):c.132T>C (p.Tyr44=)
NM_002454.3(MTRR):c.132T>G (p.Tyr44Ter)
NM_002454.3(MTRR):c.1339A>T (p.Lys447Ter) rs1440404360
NM_002454.3(MTRR):c.1350C>T (p.Pro450=)
NM_002454.3(MTRR):c.1355_1361dup (p.Cys455fs)
NM_002454.3(MTRR):c.1356A>G (p.Pro452=)
NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser) rs764469824
NM_002454.3(MTRR):c.1368A>G (p.Ala456=) rs2126785758
NM_002454.3(MTRR):c.1370+12T>C
NM_002454.3(MTRR):c.1370+12del rs1444115346
NM_002454.3(MTRR):c.1370+20T>A
NM_002454.3(MTRR):c.1370+2TAC[3]
NM_002454.3(MTRR):c.1370+9A>G rs2126785823
NM_002454.3(MTRR):c.1370+9del
NM_002454.3(MTRR):c.1371-11dup
NM_002454.3(MTRR):c.1371-17T>C
NM_002454.3(MTRR):c.1371-18G>A
NM_002454.3(MTRR):c.1371-1G>A rs1219605974
NM_002454.3(MTRR):c.1371-4G>T rs2126793044
NM_002454.3(MTRR):c.1371-8C>G rs2126793017
NM_002454.3(MTRR):c.1373C>G (p.Ser458Ter)
NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter) rs1554006017
NM_002454.3(MTRR):c.1386C>T (p.His462=)
NM_002454.3(MTRR):c.1394dup (p.Leu466fs)
NM_002454.3(MTRR):c.1395G>A (p.Lys465=) rs2126793201
NM_002454.3(MTRR):c.1401T>G (p.His467Gln) rs1737824362
NM_002454.3(MTRR):c.1415T>C (p.Ile472Thr)
NM_002454.3(MTRR):c.1418_1419del (p.Val473fs)
NM_002454.3(MTRR):c.1425T>C (p.Phe475=) rs1737829430
NM_002454.3(MTRR):c.1428G>A (p.Leu476=)
NM_002454.3(MTRR):c.1430C>G (p.Ser477Cys) rs1737830740
NM_002454.3(MTRR):c.1431T>G (p.Ser477=) rs896702427
NM_002454.3(MTRR):c.1438A>G (p.Thr480Ala)
NM_002454.3(MTRR):c.1441dup (p.Thr481fs)
NM_002454.3(MTRR):c.1446G>C (p.Glu482Asp) rs2126793498
NM_002454.3(MTRR):c.1452G>A (p.Leu484=) rs2126793535
NM_002454.3(MTRR):c.1454G>A (p.Arg485Gln)
NM_002454.3(MTRR):c.1457A>G (p.Lys486Arg)
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg) rs137853061
NM_002454.3(MTRR):c.1473C>T (p.Gly491=)
NM_002454.3(MTRR):c.1474del (p.Trp492fs)
NM_002454.3(MTRR):c.1475G>A (p.Trp492Ter)
NM_002454.3(MTRR):c.1476del (p.Trp492fs) rs2126793645
NM_002454.3(MTRR):c.1479G>A (p.Leu493=)
NM_002454.3(MTRR):c.1482C>T (p.Ala494=) rs1579792709
NM_002454.3(MTRR):c.1488G>A (p.Leu496=) rs1158860588
NM_002454.3(MTRR):c.1490T>C (p.Val497Ala) rs1737849237
NM_002454.3(MTRR):c.1492G>A (p.Ala498Thr) rs1737849963
NM_002454.3(MTRR):c.1493C>T (p.Ala498Val)
NM_002454.3(MTRR):c.1499T>G (p.Val500Gly)
NM_002454.3(MTRR):c.1502T>G (p.Leu501Arg) rs2126793764
NM_002454.3(MTRR):c.1504C>T (p.Gln502Ter) rs1737852706
NM_002454.3(MTRR):c.1506G>A (p.Gln502=)
NM_002454.3(MTRR):c.1515A>G (p.Ile505Met)
NM_002454.3(MTRR):c.1520C>T (p.Ala507Val)
NM_002454.3(MTRR):c.1524C>T (p.Ser508=)
NM_002454.3(MTRR):c.1526A>G (p.His509Arg)
NM_002454.3(MTRR):c.1534A>C (p.Ser512Arg)
NM_002454.3(MTRR):c.1545C>T (p.Ala515=)
NM_002454.3(MTRR):c.1552C>T (p.Pro518Ser)
NM_002454.3(MTRR):c.1554T>C (p.Pro518=) rs2126794116
NM_002454.3(MTRR):c.1557+10T>C rs1414777712
NM_002454.3(MTRR):c.1557+16C>T
NM_002454.3(MTRR):c.1558-12G>A
NM_002454.3(MTRR):c.1558-13T>C
NM_002454.3(MTRR):c.1558-14A>G
NM_002454.3(MTRR):c.1558-15del
NM_002454.3(MTRR):c.1558-17T>C
NM_002454.3(MTRR):c.1558-6T>C
NM_002454.3(MTRR):c.1558-8T>C rs2126807577
NM_002454.3(MTRR):c.1560A>C (p.Ile520=)
NM_002454.3(MTRR):c.1564A>G (p.Ile522Val)
NM_002454.3(MTRR):c.1566C>A (p.Ile522=) rs1579815027
NM_002454.3(MTRR):c.1575A>T (p.Arg525=)
NM_002454.3(MTRR):c.1581A>G (p.Thr527=)
NM_002454.3(MTRR):c.1581A>T (p.Thr527=)
NM_002454.3(MTRR):c.1583A>G (p.Asn528Ser)
NM_002454.3(MTRR):c.1590C>T (p.Phe530=) rs2126807805
NM_002454.3(MTRR):c.1594T>C (p.Leu532=) rs2126807843
NM_002454.3(MTRR):c.1596A>G (p.Leu532=)
NM_002454.3(MTRR):c.1596A>T (p.Leu532Phe)
NM_002454.3(MTRR):c.1599A>G (p.Pro533=) rs2126807880
NM_002454.3(MTRR):c.159T>C (p.Leu53=)
NM_002454.3(MTRR):c.15G>A (p.Leu5=) rs2126643854
NM_002454.3(MTRR):c.1608C>T (p.Pro536=)
NM_002454.3(MTRR):c.1612dup (p.Ile538fs) rs757800887
NM_002454.3(MTRR):c.1614C>T (p.Ile538=) rs2126807956
NM_002454.3(MTRR):c.1619T>G (p.Ile540Ser)
NM_002454.3(MTRR):c.1620C>T (p.Ile540=)
NM_002454.3(MTRR):c.1621A>G (p.Ile541Val) rs752471011
NM_002454.3(MTRR):c.1622_1623dup (p.Met542Ter) rs2126808021
NM_002454.3(MTRR):c.1628T>A (p.Val543Glu)
NM_002454.3(MTRR):c.162T>C (p.Val54=) rs2126662749
NM_002454.3(MTRR):c.1631del (p.Gly544fs)
NM_002454.3(MTRR):c.1632T>C (p.Gly544=)
NM_002454.3(MTRR):c.1642G>A (p.Gly548Ser) rs1738413262
NM_002454.3(MTRR):c.1643del (p.Gly548fs)
NM_002454.3(MTRR):c.1644C>T (p.Gly548=)
NM_002454.3(MTRR):c.1650C>T (p.Ala550=) rs2126808168
NM_002454.3(MTRR):c.1652dup (p.Phe552fs) rs2126808162
NM_002454.3(MTRR):c.165T>C (p.Val55=)
NM_002454.3(MTRR):c.1668A>C (p.Leu556=)
NM_002454.3(MTRR):c.1668A>G (p.Leu556=)
NM_002454.3(MTRR):c.1670A>G (p.Gln557Arg)
NM_002454.3(MTRR):c.1674T>C (p.His558=)
NM_002454.3(MTRR):c.1676+15dup
NM_002454.3(MTRR):c.1676+2T>C
NM_002454.3(MTRR):c.1676+7T>G
NM_002454.3(MTRR):c.1676+8C>T
NM_002454.3(MTRR):c.1677-11T>C
NM_002454.3(MTRR):c.1677-1G>A
NM_002454.3(MTRR):c.1677-20C>T
NM_002454.3(MTRR):c.1677-4T>C
NM_002454.3(MTRR):c.1677-7dup
NM_002454.3(MTRR):c.1677-9del rs746262908
NM_002454.3(MTRR):c.1677-9dup rs746262908
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs) rs768980918
NM_002454.3(MTRR):c.1680G>A (p.Glu560=) rs2126812708
NM_002454.3(MTRR):c.1682A>G (p.Lys561Arg)
NM_002454.3(MTRR):c.1686C>T (p.Leu562=) rs909879819
NM_002454.3(MTRR):c.1698C>T (p.His566=) rs2126812807
NM_002454.3(MTRR):c.16T>C (p.Leu6=) rs2126643873
NM_002454.3(MTRR):c.1704T>C (p.Asp568=) rs2126812841
NM_002454.3(MTRR):c.1716A>C (p.Gly572=) rs755255468
NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr) rs1738616151
NM_002454.3(MTRR):c.171T>A (p.Val57=) rs2126662820
NM_002454.3(MTRR):c.1720A>T (p.Met574Leu) rs781416288
NM_002454.3(MTRR):c.1725GTT[1] (p.Leu576del) rs2126812944
NM_002454.3(MTRR):c.1728G>A (p.Leu576=)
NM_002454.3(MTRR):c.1728del (p.Leu576fs) rs2126812977
NM_002454.3(MTRR):c.1741A>C (p.Arg581=) rs1738621244
NM_002454.3(MTRR):c.1749G>A (p.Lys583=) rs1261248965
NM_002454.3(MTRR):c.1764A>C (p.Leu588=) rs766927577
NM_002454.3(MTRR):c.1764A>T (p.Leu588=) rs766927577
NM_002454.3(MTRR):c.1768A>G (p.Arg590Gly)
NM_002454.3(MTRR):c.1769+10A>T rs1738630744
NM_002454.3(MTRR):c.1769+11A>G
NM_002454.3(MTRR):c.1769+15C>G
NM_002454.3(MTRR):c.1769+6G>A
NM_002454.3(MTRR):c.1769+9C>G
NM_002454.3(MTRR):c.1770-12A>G
NM_002454.3(MTRR):c.1770-14A>G
NM_002454.3(MTRR):c.1770-7A>G rs2126813814
NM_002454.3(MTRR):c.1771A>G (p.Lys591Glu)
NM_002454.3(MTRR):c.1779C>G (p.Leu593=)
NM_002454.3(MTRR):c.177C>T (p.Thr59=)
NM_002454.3(MTRR):c.1784A>G (p.His595Arg)
NM_002454.3(MTRR):c.1788C>T (p.Phe596=)
NM_002454.3(MTRR):c.1794G>A (p.Lys598=) rs2126814001
NM_002454.3(MTRR):c.1796A>G (p.His599Arg)
NM_002454.3(MTRR):c.1803C>T (p.Ile601=) rs1448214074
NM_002454.3(MTRR):c.1804T>C (p.Leu602=)
NM_002454.3(MTRR):c.1809T>C (p.Thr603=) rs1390898831
NM_002454.3(MTRR):c.1815A>G (p.Leu605=) rs2126814152
NM_002454.3(MTRR):c.1818G>T (p.Lys606Asn) rs939239779
NM_002454.3(MTRR):c.1824C>G (p.Ser608=)
NM_002454.3(MTRR):c.1832G>C (p.Arg611Thr) rs2126814266
NM_002454.3(MTRR):c.1839T>A (p.Ala613=) rs2126814313
NM_002454.3(MTRR):c.183C>T (p.Gly61=)
NM_002454.3(MTRR):c.1846G>A (p.Gly616Arg)
NM_002454.3(MTRR):c.1854G>A (p.Glu618=) rs955857433
NM_002454.3(MTRR):c.1863A>G (p.Pro621=)
NM_002454.3(MTRR):c.1866A>G (p.Ala622=)
NM_002454.3(MTRR):c.186C>T (p.Thr62=) rs940332374
NM_002454.3(MTRR):c.1875G>A (p.Val625=) rs12347
NM_002454.3(MTRR):c.1875G>C (p.Val625=) rs12347
NM_002454.3(MTRR):c.1875G>T (p.Val625=) rs12347
NM_002454.3(MTRR):c.1878A>G (p.Gln626=)
NM_002454.3(MTRR):c.1884C>T (p.Asn628=)
NM_002454.3(MTRR):c.1887C>A (p.Ile629=) rs2126814585
NM_002454.3(MTRR):c.1887C>T (p.Ile629=)
NM_002454.3(MTRR):c.1893T>C (p.Leu631=) rs114274194
NM_002454.3(MTRR):c.1902G>A (p.Gln634=) rs945164864
NM_002454.3(MTRR):c.1910_1911delinsAA (p.Ala637Glu)
NM_002454.3(MTRR):c.1912A>C (p.Arg638=) rs2126814708
NM_002454.3(MTRR):c.1920C>T (p.Leu640=)
NM_002454.3(MTRR):c.1923C>G (p.Leu641=) rs1738686385
NM_002454.3(MTRR):c.1923C>T (p.Leu641=)
NM_002454.3(MTRR):c.1927G>C (p.Glu643Gln)
NM_002454.3(MTRR):c.1929G>A (p.Glu643=) rs1738688155
NM_002454.3(MTRR):c.1932C>T (p.Asn644=) rs374659219
NM_002454.3(MTRR):c.1938T>C (p.His646=) rs747850307
NM_002454.3(MTRR):c.1952+10T>A
NM_002454.3(MTRR):c.1952+10T>C
NM_002454.3(MTRR):c.1952+10_1952+12del rs2126815094
NM_002454.3(MTRR):c.1952+11A>T
NM_002454.3(MTRR):c.1952+12_1952+16dup
NM_002454.3(MTRR):c.1952+13C>T
NM_002454.3(MTRR):c.1952+17C>A
NM_002454.3(MTRR):c.1952+20A>G
NM_002454.3(MTRR):c.1952+7C>T
NM_002454.3(MTRR):c.1953-14A>G
NM_002454.3(MTRR):c.1953-14_1953-12del
NM_002454.3(MTRR):c.1953-15T>C
NM_002454.3(MTRR):c.1953-16T>C
NM_002454.3(MTRR):c.1953-18T>C
NM_002454.3(MTRR):c.1953-19T>C
NM_002454.3(MTRR):c.1953-20C>T
NM_002454.3(MTRR):c.1953-4C>G
NM_002454.3(MTRR):c.1953-4C>T
NM_002454.3(MTRR):c.1953-9C>A
NM_002454.3(MTRR):c.1953del (p.Asp652fs)
NM_002454.3(MTRR):c.1956T>C (p.Asp652=) rs765283033
NM_002454.3(MTRR):c.1958C>A (p.Ala653Glu)
NM_002454.3(MTRR):c.195A>G (p.Pro65=) rs1166869664
NM_002454.3(MTRR):c.1962G>A (p.Lys654=)
NM_002454.3(MTRR):c.1970C>T (p.Ala657Val) rs1739209079
NM_002454.3(MTRR):c.1971C>T (p.Ala657=)
NM_002454.3(MTRR):c.1975G>T (p.Asp659Tyr)
NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu) rs751318676
NM_002454.3(MTRR):c.1983T>C (p.His661=)
NM_002454.3(MTRR):c.1986T>C (p.Asp662=) rs2126829225
NM_002454.3(MTRR):c.1989C>T (p.Ala663=) rs2126829261
NM_002454.3(MTRR):c.1998A>G (p.Gln666=) rs767507060
NM_002454.3(MTRR):c.1A>G (p.Met1Val) rs1747827267
NM_002454.3(MTRR):c.2001A>T (p.Ile667=) rs1186554585
NM_002454.3(MTRR):c.2016T>C (p.Val672=) rs1162603124
NM_002454.3(MTRR):c.2021T>C (p.Val674Ala) rs775031794
NM_002454.3(MTRR):c.2029C>T (p.Leu677=)
NM_002454.3(MTRR):c.2031A>C (p.Leu677=)
NM_002454.3(MTRR):c.2037A>C (p.Ala679=)
NM_002454.3(MTRR):c.2037A>G (p.Ala679=)
NM_002454.3(MTRR):c.2047C>T (p.Leu683=)
NM_002454.3(MTRR):c.2049G>C (p.Leu683=)
NM_002454.3(MTRR):c.204A>G (p.Thr68=)
NM_002454.3(MTRR):c.2072G>A (p.Arg691His)
NM_002454.3(MTRR):c.2079T>G (p.Leu693=)
NM_002454.3(MTRR):c.2088T>A (p.Ile696=)
NM_002454.3(MTRR):c.2088T>C (p.Ile696=) rs2126829944
NM_002454.3(MTRR):c.2094A>G (p.Ser698=) rs1249803440
NM_002454.3(MTRR):c.216T>C (p.Phe72=)
NM_002454.3(MTRR):c.220A>G (p.Lys74Glu) rs1748351304
NM_002454.3(MTRR):c.227del (p.Ile76fs)
NM_002454.3(MTRR):c.228dup (p.Gln77fs) rs2126663415
NM_002454.3(MTRR):c.234C>T (p.Asn78=) rs757746363
NM_002454.3(MTRR):c.237A>G (p.Gln79=)
NM_002454.3(MTRR):c.240A>C (p.Thr80=)
NM_002454.3(MTRR):c.240A>G (p.Thr80=)
NM_002454.3(MTRR):c.246G>A (p.Pro82=) rs149300444
NM_002454.3(MTRR):c.24T>C (p.Tyr8=) rs1747831647
NM_002454.3(MTRR):c.253T>G (p.Phe85Val)
NM_002454.3(MTRR):c.261T>C (p.Ala87=) rs138167806
NM_002454.3(MTRR):c.263del (p.His88fs)
NM_002454.3(MTRR):c.264C>T (p.His88=) rs770540418
NM_002454.3(MTRR):c.26C>G (p.Ala9Gly)
NM_002454.3(MTRR):c.270del (p.Tyr91fs) rs1579619636
NM_002454.3(MTRR):c.277T>C (p.Leu93=) rs1318273666
NM_002454.3(MTRR):c.279A>G (p.Leu93=)
NM_002454.3(MTRR):c.283+13C>T
NM_002454.3(MTRR):c.283+15C>G
NM_002454.3(MTRR):c.283+1G>A
NM_002454.3(MTRR):c.283+1_283+20del rs1748371268
NM_002454.3(MTRR):c.283+9C>T rs2126663981
NM_002454.3(MTRR):c.283+9CT[3] rs1341998318
NM_002454.3(MTRR):c.284-17G>A
NM_002454.3(MTRR):c.284-17del
NM_002454.3(MTRR):c.284-18T>C
NM_002454.3(MTRR):c.284-5T>G
NM_002454.3(MTRR):c.284-6C>T
NM_002454.3(MTRR):c.288C>G (p.Leu96=) rs35587995
NM_002454.3(MTRR):c.290del (p.Gly97fs)
NM_002454.3(MTRR):c.299A>G (p.Glu100Gly)
NM_002454.3(MTRR):c.304A>C (p.Thr102Pro)
NM_002454.3(MTRR):c.309C>T (p.Tyr103=)
NM_002454.3(MTRR):c.312T>C (p.Phe104=) rs1044244393
NM_002454.3(MTRR):c.318T>C (p.Asn106=)
NM_002454.3(MTRR):c.320G>A (p.Gly107Glu)
NM_002454.3(MTRR):c.324G>A (p.Gly108=)
NM_002454.3(MTRR):c.324del (p.Lys109fs) rs1189298981
NM_002454.3(MTRR):c.333T>C (p.Ile111=) rs2126675587
NM_002454.3(MTRR):c.340del (p.Arg114fs) rs2126675629
NM_002454.3(MTRR):c.342A>G (p.Arg114=)
NM_002454.3(MTRR):c.345T>G (p.Leu115=)
NM_002454.3(MTRR):c.348A>G (p.Gln116=)
NM_002454.3(MTRR):c.350A>G (p.Glu117Gly) rs2126675683
NM_002454.3(MTRR):c.354T>G (p.Leu118=) rs1465852233
NM_002454.3(MTRR):c.354_358del (p.Gly119fs) rs2126675707
NM_002454.3(MTRR):c.360C>T (p.Ala120=)
NM_002454.3(MTRR):c.361C>T (p.Arg121Trp)
NM_002454.3(MTRR):c.362G>A (p.Arg121Gln)
NM_002454.3(MTRR):c.369C>T (p.Phe123=)
NM_002454.3(MTRR):c.375C>T (p.Asp125=) rs757292247
NM_002454.3(MTRR):c.381A>G (p.Gly127=) rs771642983
NM_002454.3(MTRR):c.393C>T (p.Asp131=)
NM_002454.3(MTRR):c.396T>C (p.Cys132=)
NM_002454.3(MTRR):c.397G>C (p.Val133Leu) rs770923981
NM_002454.3(MTRR):c.397_398del (p.Val133fs)
NM_002454.3(MTRR):c.401+12_401+13del
NM_002454.3(MTRR):c.401+14T>A
NM_002454.3(MTRR):c.401+17C>G
NM_002454.3(MTRR):c.401+17C>T
NM_002454.3(MTRR):c.401+2_401+7del rs2126676051
NM_002454.3(MTRR):c.402-18T>C
NM_002454.3(MTRR):c.402-1G>C
NM_002454.3(MTRR):c.402-1G>T rs1734858651
NM_002454.3(MTRR):c.402-2A>G rs2126692827
NM_002454.3(MTRR):c.402-6G>T rs2126692815
NM_002454.3(MTRR):c.402-6del
NM_002454.3(MTRR):c.414G>A (p.Val138=)
NM_002454.3(MTRR):c.420G>A (p.Glu140=)
NM_002454.3(MTRR):c.423G>C (p.Pro141=) rs753947379
NM_002454.3(MTRR):c.438C>A (p.Leu146=)
NM_002454.3(MTRR):c.438C>G (p.Leu146=)
NM_002454.3(MTRR):c.438C>T (p.Leu146=)
NM_002454.3(MTRR):c.441G>A (p.Trp147Ter)
NM_002454.3(MTRR):c.449T>G (p.Leu150Arg) rs2126693065
NM_002454.3(MTRR):c.456G>A (p.Lys152=) rs1734864252
NM_002454.3(MTRR):c.462T>C (p.Phe154=) rs2126693127
NM_002454.3(MTRR):c.467C>G (p.Ser156Ter)
NM_002454.3(MTRR):c.468A>G (p.Ser156=)
NM_002454.3(MTRR):c.472A>C (p.Arg158=)
NM_002454.3(MTRR):c.477A>C (p.Gly159=) rs1270504511
NM_002454.3(MTRR):c.483G>A (p.Glu161=)
NM_002454.3(MTRR):c.485A>G (p.Glu162Gly) rs1734869328
NM_002454.3(MTRR):c.495dup (p.Ala166fs)
NM_002454.3(MTRR):c.496G>A (p.Ala166Thr)
NM_002454.3(MTRR):c.496G>T (p.Ala166Ser)
NM_002454.3(MTRR):c.499C>G (p.Leu167Val)
NM_002454.3(MTRR):c.507G>T (p.Val169=) rs367609729
NM_002454.3(MTRR):c.516T>C (p.Pro172=) rs1579656831
NM_002454.3(MTRR):c.516T>G (p.Pro172=)
NM_002454.3(MTRR):c.51C>G (p.Ala17=)
NM_002454.3(MTRR):c.51C>T (p.Ala17=)
NM_002454.3(MTRR):c.525G>A (p.Ser175=)
NM_002454.3(MTRR):c.525G>C (p.Ser175=)
NM_002454.3(MTRR):c.534C>T (p.Asp178=) rs1417585228
NM_002454.3(MTRR):c.538G>A (p.Val180Met)
NM_002454.3(MTRR):c.558C>T (p.His186=)
NM_002454.3(MTRR):c.55G>A (p.Ala19Thr)
NM_002454.3(MTRR):c.573C>G (p.Val191=) rs777364593
NM_002454.3(MTRR):c.573C>T (p.Val191=) rs777364593
NM_002454.3(MTRR):c.579T>C (p.Leu193=) rs2126694174
NM_002454.3(MTRR):c.57A>C (p.Ala19=)
NM_002454.3(MTRR):c.582G>A (p.Leu194=)
NM_002454.3(MTRR):c.589G>A (p.Asp197Asn) rs748186027
NM_002454.3(MTRR):c.591T>C (p.Asp197=)
NM_002454.3(MTRR):c.606G>A (p.Lys202=) rs368030155
NM_002454.3(MTRR):c.612T>G (p.Ser204=) rs374670570
NM_002454.3(MTRR):c.624G>A (p.Lys208=)
NM_002454.3(MTRR):c.630T>C (p.Asn210=) rs2126694596
NM_002454.3(MTRR):c.635T>C (p.Val212Ala)
NM_002454.3(MTRR):c.636G>A (p.Val212=) rs368140804
NM_002454.3(MTRR):c.636G>C (p.Val212=)
NM_002454.3(MTRR):c.645C>T (p.Asn215=) rs1734907656
NM_002454.3(MTRR):c.645_648del (p.Gln216fs)
NM_002454.3(MTRR):c.652A>C (p.Asn218His)
NM_002454.3(MTRR):c.652A>G (p.Asn218Asp)
NM_002454.3(MTRR):c.654T>C (p.Asn218=) rs770060665
NM_002454.3(MTRR):c.654T>G (p.Asn218Lys)
NM_002454.3(MTRR):c.678C>G (p.Ser226=)
NM_002454.3(MTRR):c.678C>T (p.Ser226=)
NM_002454.3(MTRR):c.681A>G (p.Ser227=) rs749515067
NM_002454.3(MTRR):c.693G>A (p.Ser231=)
NM_002454.3(MTRR):c.693G>C (p.Ser231=) rs775348918
NM_002454.3(MTRR):c.6G>A (p.Arg2=) rs560321328
NM_002454.3(MTRR):c.702A>C (p.Pro234=) rs961373750
NM_002454.3(MTRR):c.702A>G (p.Pro234=) rs961373750
NM_002454.3(MTRR):c.716C>T (p.Ser239Phe) rs371860776
NM_002454.3(MTRR):c.718_719del (p.Leu240fs) rs1207820860
NM_002454.3(MTRR):c.734del (p.Leu245fs) rs1734927527
NM_002454.3(MTRR):c.735A>G (p.Leu245=) rs1343821146
NM_002454.3(MTRR):c.738C>T (p.Pro246=)
NM_002454.3(MTRR):c.740del (p.Pro247fs) rs752858024
NM_002454.3(MTRR):c.741del (p.Glu248fs) rs1734931275
NM_002454.3(MTRR):c.753G>A (p.Gln251=)
NM_002454.3(MTRR):c.754del (p.Val252fs)
NM_002454.3(MTRR):c.75A>G (p.Gln25=) rs1553999358
NM_002454.3(MTRR):c.762G>A (p.Leu254=)
NM_002454.3(MTRR):c.780+17T>C
NM_002454.3(MTRR):c.780+17T>G
NM_002454.3(MTRR):c.780+19A>G
NM_002454.3(MTRR):c.780+19del
NM_002454.3(MTRR):c.780+8A>G rs1283751633
NM_002454.3(MTRR):c.781-2A>C
NM_002454.3(MTRR):c.781-2A>T
NM_002454.3(MTRR):c.781-4C>T rs1057521905
NM_002454.3(MTRR):c.781-5T>G rs2126727387
NM_002454.3(MTRR):c.781-6T>C
NM_002454.3(MTRR):c.781-8T>C
NM_002454.3(MTRR):c.789C>T (p.Ser263=) rs577950573
NM_002454.3(MTRR):c.794T>G (p.Val265Gly)
NM_002454.3(MTRR):c.815del (p.Pro272fs) rs2126727585
NM_002454.3(MTRR):c.816A>G (p.Pro272=)
NM_002454.3(MTRR):c.81G>A (p.Val27=) rs1361273528
NM_002454.3(MTRR):c.825A>G (p.Gln275=)
NM_002454.3(MTRR):c.829C>A (p.Pro277Thr)
NM_002454.3(MTRR):c.83T>C (p.Val28Ala)
NM_002454.3(MTRR):c.849A>G (p.Gln283=) rs1464577162
NM_002454.3(MTRR):c.850C>T (p.Leu284Phe)
NM_002454.3(MTRR):c.858G>A (p.Thr286=) rs762745815
NM_002454.3(MTRR):c.858G>C (p.Thr286=) rs762745815
NM_002454.3(MTRR):c.858G>T (p.Thr286=)
NM_002454.3(MTRR):c.860A>G (p.Asn287Ser) rs750009895
NM_002454.3(MTRR):c.861dup (p.Asp288Ter)
NM_002454.3(MTRR):c.865G>A (p.Ala289Thr) rs776031136
NM_002454.3(MTRR):c.867C>G (p.Ala289=) rs1579702611
NM_002454.3(MTRR):c.867C>T (p.Ala289=) rs1579702611
NM_002454.3(MTRR):c.873A>G (p.Lys291=) rs2126727889
NM_002454.3(MTRR):c.87T>C (p.His29=) rs1212726848
NM_002454.3(MTRR):c.882G>A (p.Leu294=)
NM_002454.3(MTRR):c.892T>C (p.Leu298=) rs758638445
NM_002454.3(MTRR):c.901del (p.Ser301fs)
NM_002454.3(MTRR):c.903+11A>G
NM_002454.3(MTRR):c.903+15T>G
NM_002454.3(MTRR):c.903+17_903+20del
NM_002454.3(MTRR):c.903+1G>A
NM_002454.3(MTRR):c.903+7T>C
NM_002454.3(MTRR):c.903+9C>T
NM_002454.3(MTRR):c.904-10T>C
NM_002454.3(MTRR):c.904-12G>T
NM_002454.3(MTRR):c.904-16T>C
NM_002454.3(MTRR):c.904-18A>G
NM_002454.3(MTRR):c.904-19C>T
NM_002454.3(MTRR):c.904-1G>T
NM_002454.3(MTRR):c.904-20T>C
NM_002454.3(MTRR):c.904-20_904-19insTC rs1554003809
NM_002454.3(MTRR):c.904-20_904-19insTTC rs1554003809
NM_002454.3(MTRR):c.904-20dup rs11398509
NM_002454.3(MTRR):c.904-2A>G
NM_002454.3(MTRR):c.904-3dup rs764339809
NM_002454.3(MTRR):c.904-4C>A
NM_002454.3(MTRR):c.908C>T (p.Thr303Ile)
NM_002454.3(MTRR):c.908_909del (p.Thr303fs)
NM_002454.3(MTRR):c.909A>G (p.Thr303=) rs747851597
NM_002454.3(MTRR):c.915T>C (p.Phe305=)
NM_002454.3(MTRR):c.916del (p.Ser306fs) rs1212701617
NM_002454.3(MTRR):c.920dup (p.Tyr307Ter)
NM_002454.3(MTRR):c.924G>A (p.Gln308=)
NM_002454.3(MTRR):c.930A>C (p.Gly310=) rs2126744786
NM_002454.3(MTRR):c.930_934del (p.Asp311fs)
NM_002454.3(MTRR):c.935C>G (p.Ala312Gly)
NM_002454.3(MTRR):c.936C>A (p.Ala312=)
NM_002454.3(MTRR):c.936C>G (p.Ala312=) rs777075473
NM_002454.3(MTRR):c.939C>T (p.Phe313=) rs1475861942
NM_002454.3(MTRR):c.943G>A (p.Val315Met)
NM_002454.3(MTRR):c.953C>T (p.Pro318Leu) rs2126745024
NM_002454.3(MTRR):c.957C>G (p.Asn319Lys)
NM_002454.3(MTRR):c.957C>T (p.Asn319=) rs2126745060
NM_002454.3(MTRR):c.966T>C (p.Ser322=)
NM_002454.3(MTRR):c.972A>C (p.Val324=)
NM_002454.3(MTRR):c.973_1146+462del
NM_002454.3(MTRR):c.976A>G (p.Ser326Gly) rs2126745139
NM_002454.3(MTRR):c.979C>T (p.Leu327=) rs2126745164
NM_002454.3(MTRR):c.981A>G (p.Leu327=)
NM_002454.3(MTRR):c.984C>G (p.Leu328=) rs752543039
NM_002454.3(MTRR):c.984C>T (p.Leu328=)
NM_002454.3(MTRR):c.993G>C (p.Leu331=) rs777698463
NM_002454.3(MTRR):c.997C>G (p.Leu333Val) rs10064631
NM_002454.3(MTRR):c.997C>T (p.Leu333Phe)
NM_002454.3(MTRR):c.99A>C (p.Ala33=) rs1747850617

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.