ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 320
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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.(?_74171568)_(74202085_?)dup
NC_000006.11:g.(?_74171568)_(74210468_?)dup
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

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