ClinVar Miner

List of variants in gene MTO1 reported as uncertain significance for Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 318
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012123.4(MTO1):c.1129+246G>A rs118010902 0.00049
NM_012123.4(MTO1):c.1996C>T (p.Arg666Ter) rs200217371 0.00036
NM_012123.4(MTO1):c.49A>G (p.Lys17Glu) rs145625396 0.00026
NM_012123.4(MTO1):c.1940C>T (p.Pro647Leu) rs151330992 0.00016
NM_012123.4(MTO1):c.1147G>A (p.Asp383Asn) rs145163085 0.00015
NM_012123.4(MTO1):c.691G>C (p.Val231Leu) rs150037981 0.00014
NM_012123.4(MTO1):c.868A>G (p.Arg290Gly) rs573039001 0.00011
NM_012123.4(MTO1):c.1480G>A (p.Gly494Ser) rs139449947 0.00010
NM_012123.4(MTO1):c.1501T>C (p.Tyr501His) rs143378575 0.00010
NM_012123.4(MTO1):c.2011A>G (p.Met671Val) rs374410917 0.00010
NM_012123.4(MTO1):c.2006C>T (p.Ser669Leu) rs377512595 0.00008
NM_012123.4(MTO1):c.2044T>C (p.Cys682Arg) rs140592470 0.00008
NM_012123.4(MTO1):c.992A>G (p.Gln331Arg) rs151280054 0.00007
NM_012123.4(MTO1):c.307A>G (p.Ile103Val) rs574980280 0.00006
NM_012123.4(MTO1):c.547A>G (p.Thr183Ala) rs779108851 0.00006
NM_012123.4(MTO1):c.742A>G (p.Ile248Val) rs139801695 0.00006
NM_012123.4(MTO1):c.970C>T (p.Arg324Cys) rs759192206 0.00006
NM_012123.4(MTO1):c.983G>A (p.Arg328His) rs142148270 0.00006
NM_012123.4(MTO1):c.1031T>C (p.Ile344Thr) rs373659157 0.00005
NM_012123.4(MTO1):c.1306C>T (p.Pro436Ser) rs144134827 0.00005
NM_012123.4(MTO1):c.1334G>T (p.Gly445Val) rs202008685 0.00005
NM_012123.4(MTO1):c.520A>G (p.Ser174Gly) rs564804488 0.00005
NM_012123.4(MTO1):c.1058T>C (p.Leu353Pro) rs373065217 0.00004
NM_012123.4(MTO1):c.1163G>A (p.Arg388His) rs947813456 0.00004
NM_012123.4(MTO1):c.1222A>G (p.Ile408Val) rs149407452 0.00004
NM_012123.4(MTO1):c.1235C>T (p.Thr412Ile) rs943998709 0.00004
NM_012123.4(MTO1):c.1609A>G (p.Ile537Val) rs149727324 0.00004
NM_012123.4(MTO1):c.1696C>G (p.Pro566Ala) rs139647877 0.00004
NM_012123.4(MTO1):c.1846T>C (p.Tyr616His) rs751088619 0.00004
NM_012123.4(MTO1):c.1967A>G (p.Asn656Ser) rs759983774 0.00004
NM_012123.4(MTO1):c.253G>A (p.Gly85Arg) rs1054967842 0.00004
NM_012123.4(MTO1):c.593G>C (p.Arg198Thr) rs139496338 0.00004
NM_012123.4(MTO1):c.623A>G (p.His208Arg) rs560308812 0.00004
NM_012123.4(MTO1):c.78C>G (p.Ser26Arg) rs924867881 0.00004
NM_012123.4(MTO1):c.97C>T (p.Arg33Trp) rs769059204 0.00004
NM_012123.4(MTO1):c.1465+4A>T rs555094677 0.00003
NM_012123.4(MTO1):c.1594A>G (p.Ile532Val) rs1327925744 0.00003
NM_012123.4(MTO1):c.1633G>A (p.Val545Ile) rs764677221 0.00003
NM_012123.4(MTO1):c.1717A>T (p.Thr573Ser) rs774500449 0.00003
NM_012123.4(MTO1):c.1957G>A (p.Ala653Thr) rs749086310 0.00003
NM_012123.4(MTO1):c.514C>T (p.Arg172Cys) rs370046018 0.00003
NM_012123.4(MTO1):c.806A>G (p.Asn269Ser) rs76335462 0.00003
NM_012123.4(MTO1):c.830A>G (p.Glu277Gly) rs368675393 0.00003
NM_012123.4(MTO1):c.94C>T (p.Pro32Ser) rs372395838 0.00003
NM_012123.4(MTO1):c.976C>G (p.Pro326Ala) rs1012000476 0.00003
NM_012123.4(MTO1):c.1055C>T (p.Thr352Met) rs775003861 0.00002
NM_012123.4(MTO1):c.1172C>G (p.Thr391Ser) rs377702561 0.00002
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln) rs765548847 0.00002
NM_012123.4(MTO1):c.1340T>C (p.Ile447Thr) rs755027057 0.00002
NM_012123.4(MTO1):c.1391G>A (p.Arg464His) rs141970072 0.00002
NM_012123.4(MTO1):c.1418G>A (p.Arg473His) rs1472294844 0.00002
NM_012123.4(MTO1):c.146C>T (p.Thr49Ile) rs753822562 0.00002
NM_012123.4(MTO1):c.1702C>G (p.Pro568Ala) rs200759516 0.00002
NM_012123.4(MTO1):c.1917G>A (p.Thr639=) rs142253409 0.00002
NM_012123.4(MTO1):c.286T>A (p.Leu96Met) rs145131490 0.00002
NM_012123.4(MTO1):c.313G>A (p.Asp105Asn) rs1008930519 0.00002
NM_012123.4(MTO1):c.553T>C (p.Tyr185His) rs772474195 0.00002
NM_012123.4(MTO1):c.634C>T (p.Arg212Cys) rs147346536 0.00002
NM_012123.4(MTO1):c.1067A>C (p.Glu356Ala) rs921979740 0.00001
NM_012123.4(MTO1):c.1123C>G (p.Gln375Glu) rs753603538 0.00001
NM_012123.4(MTO1):c.1194G>T (p.Leu398Phe) rs772209676 0.00001
NM_012123.4(MTO1):c.1226A>G (p.Asn409Ser) rs767029283 0.00001
NM_012123.4(MTO1):c.1261-5T>G rs1275100093 0.00001
NM_012123.4(MTO1):c.1273G>A (p.Gly425Arg) rs779264207 0.00001
NM_012123.4(MTO1):c.1291C>T (p.Arg431Trp) rs748328322 0.00001
NM_012123.4(MTO1):c.1292G>A (p.Arg431Gln) rs367815963 0.00001
NM_012123.4(MTO1):c.1300C>T (p.Arg434Cys) rs535420006 0.00001
NM_012123.4(MTO1):c.1301G>A (p.Arg434His) rs775350046 0.00001
NM_012123.4(MTO1):c.1312T>C (p.Phe438Leu) rs753473168 0.00001
NM_012123.4(MTO1):c.1339A>G (p.Ile447Val) rs747475822 0.00001
NM_012123.4(MTO1):c.1367C>G (p.Thr456Ser) rs1771517793 0.00001
NM_012123.4(MTO1):c.139G>A (p.Ala47Thr) rs1049905319 0.00001
NM_012123.4(MTO1):c.1463G>A (p.Arg488Gln) rs552919722 0.00001
NM_012123.4(MTO1):c.1510G>A (p.Ala504Thr) rs761290955 0.00001
NM_012123.4(MTO1):c.1541G>C (p.Gly514Ala) rs1392884488 0.00001
NM_012123.4(MTO1):c.1616C>T (p.Thr539Ile) rs770538630 0.00001
NM_012123.4(MTO1):c.1642C>G (p.Leu548Val) rs755838326 0.00001
NM_012123.4(MTO1):c.1757C>G (p.Ala586Gly) rs749806427 0.00001
NM_012123.4(MTO1):c.175G>T (p.Gly59Cys) rs376887969 0.00001
NM_012123.4(MTO1):c.1885C>T (p.Arg629Ter) rs752295415 0.00001
NM_012123.4(MTO1):c.1933C>A (p.Arg645Ser) rs746382157 0.00001
NM_012123.4(MTO1):c.1934G>A (p.Arg645His) rs758448974 0.00001
NM_012123.4(MTO1):c.2002C>T (p.Gln668Ter) rs1235728877 0.00001
NM_012123.4(MTO1):c.2036A>G (p.Gln679Arg) rs1418465267 0.00001
NM_012123.4(MTO1):c.2056A>G (p.Arg686Gly) rs780656358 0.00001
NM_012123.4(MTO1):c.2071G>C (p.Glu691Gln) rs748394297 0.00001
NM_012123.4(MTO1):c.2077T>C (p.Ter693Gln) rs770798772 0.00001
NM_012123.4(MTO1):c.208G>A (p.Asp70Asn) rs1346321637 0.00001
NM_012123.4(MTO1):c.304C>T (p.Arg102Cys) rs201570582 0.00001
NM_012123.4(MTO1):c.346C>T (p.Arg116Trp) rs770260720 0.00001
NM_012123.4(MTO1):c.347G>A (p.Arg116Gln) rs148202739 0.00001
NM_012123.4(MTO1):c.37G>A (p.Val13Ile) rs866899975 0.00001
NM_012123.4(MTO1):c.386T>C (p.Ile129Thr) rs1201307484 0.00001
NM_012123.4(MTO1):c.433A>G (p.Thr145Ala) rs747033959 0.00001
NM_012123.4(MTO1):c.448G>C (p.Val150Leu) rs767983065 0.00001
NM_012123.4(MTO1):c.476T>C (p.Ile159Thr) rs1184680964 0.00001
NM_012123.4(MTO1):c.521G>A (p.Ser174Asn) rs200547196 0.00001
NM_012123.4(MTO1):c.526G>A (p.Val176Ile) rs1009189949 0.00001
NM_012123.4(MTO1):c.535+5G>A rs1405997705 0.00001
NM_012123.4(MTO1):c.556G>A (p.Ala186Thr) rs780534174 0.00001
NM_012123.4(MTO1):c.561G>C (p.Glu187Asp) rs1168041486 0.00001
NM_012123.4(MTO1):c.635G>A (p.Arg212His) rs750101940 0.00001
NM_012123.4(MTO1):c.656T>C (p.Ile219Thr) rs747465085 0.00001
NM_012123.4(MTO1):c.70C>T (p.Arg24Trp) rs368723563 0.00001
NM_012123.4(MTO1):c.731C>T (p.Ala244Val) rs761373532 0.00001
NM_012123.4(MTO1):c.736G>C (p.Glu246Gln) rs750020202 0.00001
NM_012123.4(MTO1):c.764A>G (p.Lys255Arg) rs1279483238 0.00001
NM_012123.4(MTO1):c.791C>T (p.Pro264Leu) rs1025884753 0.00001
NM_012123.4(MTO1):c.82G>A (p.Asp28Asn) rs780242649 0.00001
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln) rs371179032 0.00001
NM_012123.4(MTO1):c.956A>G (p.Glu319Gly) rs376396609 0.00001
NM_012123.4(MTO1):c.988C>T (p.His330Tyr) rs544282554 0.00001
NC_000006.11:g.(?_74171578)_(74171814_?)dup
NC_000006.11:g.(?_74171578)_(74202095_?)dup
NC_000006.11:g.(?_74175912)_(74176349_?)dup
NC_000006.11:g.(?_74183068)_(74210458_?)dup
NC_000006.11:g.(?_74201937)_(74210458_?)del
NC_000006.11:g.(?_74207439)_(74210458_?)del
NC_000006.12:g.(?_73461845)_(73462081_?)dup
NM_012123.4(MTO1):c.*7A>G
NM_012123.4(MTO1):c.-4C>T
NM_012123.4(MTO1):c.1000T>A (p.Leu334Met)
NM_012123.4(MTO1):c.1013G>A (p.Gly338Glu) rs1771440211
NM_012123.4(MTO1):c.103C>G (p.Pro35Ala)
NM_012123.4(MTO1):c.1046T>C (p.Leu349Ser)
NM_012123.4(MTO1):c.104C>T (p.Pro35Leu) rs777113004
NM_012123.4(MTO1):c.1066G>A (p.Glu356Lys) rs1012440521
NM_012123.4(MTO1):c.108C>G (p.His36Gln) rs1454178328
NM_012123.4(MTO1):c.1090T>A (p.Cys364Ser) rs755211627
NM_012123.4(MTO1):c.1091G>A (p.Cys364Tyr) rs2150035920
NM_012123.4(MTO1):c.10T>C (p.Phe4Leu)
NM_012123.4(MTO1):c.1100G>T (p.Gly367Val) rs1771444030
NM_012123.4(MTO1):c.1117G>A (p.Val373Met)
NM_012123.4(MTO1):c.1126C>A (p.Pro376Thr)
NM_012123.4(MTO1):c.1129+209C>T
NM_012123.4(MTO1):c.1135G>A (p.Gly379Ser) rs746493463
NM_012123.4(MTO1):c.1141C>G (p.Gln381Glu) rs1771463297
NM_012123.4(MTO1):c.115G>A (p.Val39Met) rs766653154
NM_012123.4(MTO1):c.1160C>T (p.Pro387Leu)
NM_012123.4(MTO1):c.1177T>C (p.Ser393Pro) rs1172201357
NM_012123.4(MTO1):c.1178C>T (p.Ser393Phe)
NM_012123.4(MTO1):c.1189C>A (p.His397Asn) rs1771465246
NM_012123.4(MTO1):c.1198C>G (p.Gln400Glu)
NM_012123.4(MTO1):c.1222A>T (p.Ile408Phe)
NM_012123.4(MTO1):c.1225A>G (p.Asn409Asp)
NM_012123.4(MTO1):c.122T>G (p.Val41Gly) rs1770831602
NM_012123.4(MTO1):c.1230C>T (p.Gly410=) rs2150036324
NM_012123.4(MTO1):c.1260+191G>A rs1241914180
NM_012123.4(MTO1):c.1260+193C>A rs1554149118
NM_012123.4(MTO1):c.1261-12G>A
NM_012123.4(MTO1):c.1268T>C (p.Ile423Thr)
NM_012123.4(MTO1):c.1288C>G (p.Leu430Val) rs2150037092
NM_012123.4(MTO1):c.128G>T (p.Gly43Val) rs2150024439
NM_012123.4(MTO1):c.1294G>A (p.Val432Ile) rs774315947
NM_012123.4(MTO1):c.1298G>A (p.Ser433Asn)
NM_012123.4(MTO1):c.1327A>T (p.Thr443Ser)
NM_012123.4(MTO1):c.1353T>G (p.Ile451Met)
NM_012123.4(MTO1):c.1372G>A (p.Gly458Ser)
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.1406G>A (p.Arg469Gln) rs750141214
NM_012123.4(MTO1):c.1413G>T (p.Glu471Asp)
NM_012123.4(MTO1):c.1417C>T (p.Arg473Cys)
NM_012123.4(MTO1):c.142G>A (p.Gly48Arg)
NM_012123.4(MTO1):c.1436A>G (p.Asp479Gly)
NM_012123.4(MTO1):c.1446C>G (p.Asp482Glu) rs2150037248
NM_012123.4(MTO1):c.146C>G (p.Thr49Ser) rs753822562
NM_012123.4(MTO1):c.1477G>A (p.Ala493Thr)
NM_012123.4(MTO1):c.1483T>C (p.Cys495Arg)
NM_012123.4(MTO1):c.1493A>G (p.Gln498Arg)
NM_012123.4(MTO1):c.1499G>A (p.Arg500Gln) rs770464521
NM_012123.4(MTO1):c.1499G>C (p.Arg500Pro)
NM_012123.4(MTO1):c.1504G>A (p.Glu502Lys)
NM_012123.4(MTO1):c.152C>T (p.Ala51Val)
NM_012123.4(MTO1):c.1561A>G (p.Ile521Val)
NM_012123.4(MTO1):c.1563T>G (p.Ile521Met) rs2150037480
NM_012123.4(MTO1):c.1574G>C (p.Ser525Thr)
NM_012123.4(MTO1):c.1585A>C (p.Lys529Gln)
NM_012123.4(MTO1):c.1591T>A (p.Leu531Ile)
NM_012123.4(MTO1):c.1616C>A (p.Thr539Asn)
NM_012123.4(MTO1):c.1619G>A (p.Ser540Asn) rs773811434
NM_012123.4(MTO1):c.1619G>T (p.Ser540Ile) rs773811434
NM_012123.4(MTO1):c.1621A>G (p.Arg541Gly)
NM_012123.4(MTO1):c.1637+3A>G
NM_012123.4(MTO1):c.1637G>C (p.Arg546Thr)
NM_012123.4(MTO1):c.1639G>A (p.Ala547Thr) rs1771829402
NM_012123.4(MTO1):c.1640C>T (p.Ala547Val) rs751843868
NM_012123.4(MTO1):c.1645G>A (p.Asp549Asn)
NM_012123.4(MTO1):c.1648_1650dup (p.Val550dup) rs2150042260
NM_012123.4(MTO1):c.1658A>G (p.Tyr553Cys)
NM_012123.4(MTO1):c.166G>A (p.Ala56Thr) rs1770833571
NM_012123.4(MTO1):c.1672A>G (p.Met558Val)
NM_012123.4(MTO1):c.1676A>G (p.Asp559Gly)
NM_012123.4(MTO1):c.1687A>G (p.Lys563Glu) rs577810557
NM_012123.4(MTO1):c.1720A>G (p.Lys574Glu) rs2150042299
NM_012123.4(MTO1):c.1725T>G (p.Cys575Trp) rs1771835062
NM_012123.4(MTO1):c.1756+5A>T
NM_012123.4(MTO1):c.1759A>G (p.Thr587Ala)
NM_012123.4(MTO1):c.1777T>C (p.Phe593Leu) rs2150044944
NM_012123.4(MTO1):c.1780C>T (p.His594Tyr) rs2150044948
NM_012123.4(MTO1):c.1790A>C (p.Gln597Pro) rs2150044958
NM_012123.4(MTO1):c.1791A>G (p.Gln597=)
NM_012123.4(MTO1):c.1799A>G (p.Lys600Arg)
NM_012123.4(MTO1):c.1814A>G (p.Asp605Gly)
NM_012123.4(MTO1):c.1840C>G (p.Leu614Val)
NM_012123.4(MTO1):c.1849T>A (p.Leu617Met)
NM_012123.4(MTO1):c.1849T>G (p.Leu617Val)
NM_012123.4(MTO1):c.1868C>T (p.Ser623Phe) rs1772032922
NM_012123.4(MTO1):c.1882G>A (p.Val628Ile) rs1772033614
NM_012123.4(MTO1):c.1886G>T (p.Arg629Leu) rs894440027
NM_012123.4(MTO1):c.1896del (p.His633fs) rs2150045040
NM_012123.4(MTO1):c.1906C>T (p.Arg636Cys) rs1582701948
NM_012123.4(MTO1):c.1907G>A (p.Arg636His) rs751695333
NM_012123.4(MTO1):c.1910C>T (p.Pro637Leu)
NM_012123.4(MTO1):c.1916C>T (p.Thr639Met)
NM_012123.4(MTO1):c.1917+2_1917+3insGAGAAAGTACATTTTAGTCGTCCACAGACGGT rs1207289132
NM_012123.4(MTO1):c.1920C>G (p.Ile640Met) rs201198672
NM_012123.4(MTO1):c.1942G>A (p.Gly648Arg)
NM_012123.4(MTO1):c.1943G>A (p.Gly648Glu)
NM_012123.4(MTO1):c.1949C>T (p.Thr650Ile)
NM_012123.4(MTO1):c.1963A>G (p.Ile655Val)
NM_012123.4(MTO1):c.1966A>C (p.Asn656His)
NM_012123.4(MTO1):c.1994A>G (p.Gln665Arg)
NM_012123.4(MTO1):c.1997G>A (p.Arg666Gln)
NM_012123.4(MTO1):c.1997G>C (p.Arg666Pro) rs1772134598
NM_012123.4(MTO1):c.2026A>G (p.Lys676Glu)
NM_012123.4(MTO1):c.202C>T (p.Arg68Cys)
NM_012123.4(MTO1):c.2035C>G (p.Gln679Glu) rs927196297
NM_012123.4(MTO1):c.2038T>C (p.Tyr680His)
NM_012123.4(MTO1):c.203G>A (p.Arg68His) rs1251952926
NM_012123.4(MTO1):c.2062_2067del (p.Gln688_Glu689del)
NM_012123.4(MTO1):c.2064dup (p.Glu689fs)
NM_012123.4(MTO1):c.2065G>A (p.Glu689Lys)
NM_012123.4(MTO1):c.2070_2073del (p.Arg690fs)
NM_012123.4(MTO1):c.2072_2073del (p.Glu691fs) rs759445569
NM_012123.4(MTO1):c.216C>G (p.Ile72Met)
NM_012123.4(MTO1):c.216C>T (p.Ile72=)
NM_012123.4(MTO1):c.218-16_218-15insA
NM_012123.4(MTO1):c.223A>G (p.Met75Val)
NM_012123.4(MTO1):c.22G>T (p.Gly8Cys) rs2150024316
NM_012123.4(MTO1):c.235C>A (p.Pro79Thr) rs2150027197
NM_012123.4(MTO1):c.238T>C (p.Ser80Pro) rs1408974756
NM_012123.4(MTO1):c.242T>G (p.Phe81Cys)
NM_012123.4(MTO1):c.25C>G (p.Arg9Gly) rs763245762
NM_012123.4(MTO1):c.260G>A (p.Gly87Glu) rs751029705
NM_012123.4(MTO1):c.270G>A (p.Met90Ile)
NM_012123.4(MTO1):c.301T>C (p.Ser101Pro) rs1235731820
NM_012123.4(MTO1):c.305G>A (p.Arg102His)
NM_012123.4(MTO1):c.332A>G (p.Tyr111Cys)
NM_012123.4(MTO1):c.345C>G (p.Asn115Lys)
NM_012123.4(MTO1):c.377G>C (p.Arg126Thr)
NM_012123.4(MTO1):c.38T>C (p.Val13Ala)
NM_012123.4(MTO1):c.392G>A (p.Arg131Lys)
NM_012123.4(MTO1):c.413T>C (p.Met138Thr)
NM_012123.4(MTO1):c.416A>C (p.Gln139Pro)
NM_012123.4(MTO1):c.451C>G (p.Gln151Glu)
NM_012123.4(MTO1):c.458G>A (p.Gly153Glu)
NM_012123.4(MTO1):c.464T>C (p.Val155Ala)
NM_012123.4(MTO1):c.469G>T (p.Asp157Tyr)
NM_012123.4(MTO1):c.478_480del (p.Leu160del) rs761485089
NM_012123.4(MTO1):c.496G>A (p.Glu166Lys) rs989384303
NM_012123.4(MTO1):c.49A>C (p.Lys17Gln)
NM_012123.4(MTO1):c.502A>T (p.Thr168Ser)
NM_012123.4(MTO1):c.515G>A (p.Arg172His)
NM_012123.4(MTO1):c.515G>C (p.Arg172Pro)
NM_012123.4(MTO1):c.530T>C (p.Val177Ala) rs1771005240
NM_012123.4(MTO1):c.535+4C>T
NM_012123.4(MTO1):c.535+5G>T rs1405997705
NM_012123.4(MTO1):c.536-10T>G
NM_012123.4(MTO1):c.567_569del (p.Ile190del)
NM_012123.4(MTO1):c.598A>C (p.Met200Leu)
NM_012123.4(MTO1):c.59T>C (p.Phe20Ser) rs1770828389
NM_012123.4(MTO1):c.605T>C (p.Val202Ala) rs1206431304
NM_012123.4(MTO1):c.60_61delinsAA (p.Phe20_Pro21delinsLeuThr) rs2150024353
NM_012123.4(MTO1):c.61C>G (p.Pro21Ala) rs753873871
NM_012123.4(MTO1):c.61C>T (p.Pro21Ser) rs753873871
NM_012123.4(MTO1):c.620C>G (p.Thr207Arg)
NM_012123.4(MTO1):c.639A>C (p.Leu213Phe)
NM_012123.4(MTO1):c.641G>A (p.Gly214Glu)
NM_012123.4(MTO1):c.648G>C (p.Gln216His)
NM_012123.4(MTO1):c.652T>C (p.Ser218Pro)
NM_012123.4(MTO1):c.667C>G (p.Gln223Glu)
NM_012123.4(MTO1):c.674T>G (p.Leu225Arg) rs1327928200
NM_012123.4(MTO1):c.681G>T (p.Lys227Asn) rs781586985
NM_012123.4(MTO1):c.694G>T (p.Val232Leu)
NM_012123.4(MTO1):c.718C>T (p.Pro240Ser) rs1192411843
NM_012123.4(MTO1):c.71G>A (p.Arg24Gln) rs200417760
NM_012123.4(MTO1):c.725G>A (p.Arg242Gln)
NM_012123.4(MTO1):c.765G>C (p.Lys255Asn)
NM_012123.4(MTO1):c.767A>G (p.His256Arg) rs1771216675
NM_012123.4(MTO1):c.773C>T (p.Pro258Leu) rs868497455
NM_012123.4(MTO1):c.79A>T (p.Ser27Cys) rs1240435216
NM_012123.4(MTO1):c.80G>T (p.Ser27Ile) rs2150024378
NM_012123.4(MTO1):c.818G>C (p.Trp273Ser) rs2150031602
NM_012123.4(MTO1):c.826-10T>C
NM_012123.4(MTO1):c.83A>C (p.Asp28Ala) rs1770829413
NM_012123.4(MTO1):c.85A>T (p.Ser29Cys) rs2150024386
NM_012123.4(MTO1):c.862A>C (p.Asn288His)
NM_012123.4(MTO1):c.874G>A (p.Asp292Asn)
NM_012123.4(MTO1):c.886C>T (p.Leu296Phe)
NM_012123.4(MTO1):c.8A>C (p.Tyr3Ser)
NM_012123.4(MTO1):c.8A>G (p.Tyr3Cys)
NM_012123.4(MTO1):c.901C>T (p.Leu301Phe)
NM_012123.4(MTO1):c.911A>C (p.His304Pro) rs1771433572
NM_012123.4(MTO1):c.913G>A (p.Val305Ile) rs1457365776
NM_012123.4(MTO1):c.917A>G (p.Lys306Arg) rs1582684383
NM_012123.4(MTO1):c.919G>A (p.Glu307Lys) rs138469662
NM_012123.4(MTO1):c.923C>T (p.Thr308Met)
NM_012123.4(MTO1):c.938+14G>A
NM_012123.4(MTO1):c.939-6T>G
NM_012123.4(MTO1):c.971G>A (p.Arg324His)
NM_012123.4(MTO1):c.979A>T (p.Asn327Tyr)
NM_012123.4(MTO1):c.97C>G (p.Arg33Gly) rs769059204
NM_012123.4(MTO1):c.982C>T (p.Arg328Cys)
NM_012123.4(MTO1):c.983G>T (p.Arg328Leu) rs142148270
NM_012123.4(MTO1):c.986T>A (p.Leu329Gln) rs2150035811
NM_012123.4(MTO1):c.990T>A (p.His330Gln) rs2150035817
NM_012123.4(MTO1):c.994G>A (p.Val332Ile) rs1173140501

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.