ClinVar Miner

List of variants in gene MTO1 reported as likely benign 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: 243
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HGVS dbSNP gnomAD frequency
NM_012123.4(MTO1):c.1894C>T (p.Leu632=) rs117757245 0.00506
NM_012123.4(MTO1):c.1051A>G (p.Met351Val) rs144075994 0.00261
NM_012123.4(MTO1):c.620C>T (p.Thr207Met) rs139334277 0.00255
NM_012123.4(MTO1):c.922A>G (p.Thr308Ala) rs145043138 0.00200
NM_012123.4(MTO1):c.1549G>A (p.Val517Met) rs139608228 0.00155
NM_012123.4(MTO1):c.1082T>C (p.Met361Thr) rs145658455 0.00086
NM_012123.4(MTO1):c.1137T>C (p.Gly379=) rs141477592 0.00016
NM_012123.4(MTO1):c.726A>G (p.Arg242=) rs754401804 0.00014
NM_012123.4(MTO1):c.1667T>C (p.Val556Ala) rs185347132 0.00011
NM_012123.4(MTO1):c.939-13T>C rs371809371 0.00011
NM_012123.4(MTO1):c.961A>G (p.Lys321Glu) rs148667065 0.00008
NM_012123.4(MTO1):c.418-6T>C rs752852300 0.00007
NM_012123.4(MTO1):c.1281C>T (p.Asn427=) rs372077081 0.00006
NM_012123.4(MTO1):c.1918-11T>C rs760795915 0.00006
NM_012123.4(MTO1):c.429G>A (p.Leu143=) rs763318672 0.00006
NM_012123.4(MTO1):c.1917+12G>A rs183977797 0.00004
NM_012123.4(MTO1):c.1917+17G>A rs372865741 0.00004
NM_012123.4(MTO1):c.552A>G (p.Val184=) rs746213747 0.00004
NM_012123.4(MTO1):c.1902T>C (p.Phe634=) rs567020916 0.00003
NM_012123.4(MTO1):c.24C>T (p.Gly8=) rs773306512 0.00003
NM_012123.4(MTO1):c.258G>A (p.Lys86=) rs777174074 0.00003
NM_012123.4(MTO1):c.693G>T (p.Val231=) rs558715877 0.00003
NM_012123.4(MTO1):c.1026C>T (p.Asp342=) rs780123184 0.00002
NM_012123.4(MTO1):c.1129+13A>G rs199879600 0.00002
NM_012123.4(MTO1):c.1260+17T>G rs780859448 0.00002
NM_012123.4(MTO1):c.1335T>C (p.Gly445=) rs539098813 0.00002
NM_012123.4(MTO1):c.1650T>C (p.Val550=) rs755205490 0.00002
NM_012123.4(MTO1):c.1956C>T (p.Ala652=) rs777048417 0.00002
NM_012123.4(MTO1):c.1995A>G (p.Gln665=) rs146878659 0.00002
NM_012123.4(MTO1):c.210C>T (p.Asp70=) rs138494495 0.00002
NM_012123.4(MTO1):c.252C>T (p.Ile84=) rs374384468 0.00002
NM_012123.4(MTO1):c.339A>G (p.Val113=) rs776394925 0.00002
NM_012123.4(MTO1):c.687G>T (p.Gly229=) rs748233496 0.00002
NM_012123.4(MTO1):c.774G>A (p.Pro258=) rs748667460 0.00002
NM_012123.4(MTO1):c.951C>A (p.Ser317=) rs777680736 0.00002
NM_012123.4(MTO1):c.969G>A (p.Leu323=) rs752977187 0.00002
NM_012123.4(MTO1):c.1044G>T (p.Gly348=) rs770890953 0.00001
NM_012123.4(MTO1):c.1056G>A (p.Thr352=) rs200078197 0.00001
NM_012123.4(MTO1):c.1129+14C>G rs757783161 0.00001
NM_012123.4(MTO1):c.1129+9G>T rs377448878 0.00001
NM_012123.4(MTO1):c.1134C>T (p.Tyr378=) rs779895347 0.00001
NM_012123.4(MTO1):c.1152C>T (p.Tyr384=) rs747803200 0.00001
NM_012123.4(MTO1):c.1261-9C>T rs1771508479 0.00001
NM_012123.4(MTO1):c.1272C>T (p.Ala424=) rs184320231 0.00001
NM_012123.4(MTO1):c.1284C>T (p.Ala428=) rs1771510990 0.00001
NM_012123.4(MTO1):c.1389C>T (p.Tyr463=) rs747803452 0.00001
NM_012123.4(MTO1):c.1401C>T (p.Thr467=) rs761354670 0.00001
NM_012123.4(MTO1):c.1466-11C>T rs1177539865 0.00001
NM_012123.4(MTO1):c.1515T>C (p.Cys505=) rs986939142 0.00001
NM_012123.4(MTO1):c.1599A>G (p.Pro533=) rs1167772743 0.00001
NM_012123.4(MTO1):c.1626T>C (p.Ser542=) rs759376061 0.00001
NM_012123.4(MTO1):c.1638-12A>G rs762987532 0.00001
NM_012123.4(MTO1):c.187C>G (p.Leu63Val) rs371275324 0.00001
NM_012123.4(MTO1):c.1918-20C>T rs1227268741 0.00001
NM_012123.4(MTO1):c.1929T>A (p.Ala643=) rs779392966 0.00001
NM_012123.4(MTO1):c.192C>T (p.Leu64=) rs749354721 0.00001
NM_012123.4(MTO1):c.2004G>A (p.Gln668=) rs1274349883 0.00001
NM_012123.4(MTO1):c.2007G>A (p.Ser669=) rs760282169 0.00001
NM_012123.4(MTO1):c.2064A>G (p.Gln688=) rs372208655 0.00001
NM_012123.4(MTO1):c.218-8_218-6del rs776822646 0.00001
NM_012123.4(MTO1):c.228A>G (p.Ser76=) rs1770981132 0.00001
NM_012123.4(MTO1):c.405A>G (p.Lys135=) rs1170291540 0.00001
NM_012123.4(MTO1):c.621G>A (p.Thr207=) rs763650850 0.00001
NM_012123.4(MTO1):c.768T>C (p.His256=) rs781712108 0.00001
NM_012123.4(MTO1):c.840G>A (p.Leu280=) rs749351702 0.00001
NM_012123.4(MTO1):c.933A>G (p.Gly311=) rs1264684764 0.00001
NM_012123.4(MTO1):c.939-7A>T rs769685212 0.00001
NM_012123.4(MTO1):c.96C>T (p.Pro32=) rs938648582 0.00001
NM_012123.4(MTO1):c.1002G>A (p.Leu334=) rs2150035828
NM_012123.4(MTO1):c.1044G>A (p.Gly348=)
NM_012123.4(MTO1):c.1047A>G (p.Leu349=)
NM_012123.4(MTO1):c.105G>A (p.Pro35=)
NM_012123.4(MTO1):c.1062A>C (p.Pro354=) rs1060504378
NM_012123.4(MTO1):c.1089A>C (p.Thr363=)
NM_012123.4(MTO1):c.1104G>A (p.Leu368=)
NM_012123.4(MTO1):c.1107G>A (p.Glu369=)
NM_012123.4(MTO1):c.111C>T (p.Phe37=)
NM_012123.4(MTO1):c.1129+12C>T rs778706192
NM_012123.4(MTO1):c.1129+13A>C
NM_012123.4(MTO1):c.1129+15A>G
NM_012123.4(MTO1):c.1129+17G>A
NM_012123.4(MTO1):c.1129+8_1129+10del rs758510777
NM_012123.4(MTO1):c.1130-20T>C
NM_012123.4(MTO1):c.114C>T (p.Asp38=)
NM_012123.4(MTO1):c.1170C>T (p.Ile390=)
NM_012123.4(MTO1):c.123C>G (p.Val41=)
NM_012123.4(MTO1):c.1257T>C (p.Ala419=)
NM_012123.4(MTO1):c.1260+9_1260+13del rs935181583
NM_012123.4(MTO1):c.1261-12G>T
NM_012123.4(MTO1):c.1261-18A>G
NM_012123.4(MTO1):c.1261-4G>C
NM_012123.4(MTO1):c.1287T>C (p.Ser429=)
NM_012123.4(MTO1):c.1290T>C (p.Leu430=) rs148227552
NM_012123.4(MTO1):c.1293G>A (p.Arg431=)
NM_012123.4(MTO1):c.1299T>C (p.Ser433=)
NM_012123.4(MTO1):c.129T>C (p.Gly43=)
NM_012123.4(MTO1):c.12C>T (p.Phe4=)
NM_012123.4(MTO1):c.1311C>G (p.Pro437=) rs763521200
NM_012123.4(MTO1):c.1314T>C (p.Phe438=) rs2150037121
NM_012123.4(MTO1):c.1317G>C (p.Val439=)
NM_012123.4(MTO1):c.1323C>T (p.Ser441=)
NM_012123.4(MTO1):c.1347C>G (p.Val449=)
NM_012123.4(MTO1):c.1353T>C (p.Ile451=) rs557440944
NM_012123.4(MTO1):c.135A>G (p.Gly45=)
NM_012123.4(MTO1):c.1362C>T (p.Leu454=)
NM_012123.4(MTO1):c.1431C>T (p.Arg477=)
NM_012123.4(MTO1):c.1434T>C (p.Pro478=)
NM_012123.4(MTO1):c.1440T>C (p.Asn480=)
NM_012123.4(MTO1):c.1443T>C (p.Ala481=) rs2150037243
NM_012123.4(MTO1):c.1455C>T (p.Leu485=)
NM_012123.4(MTO1):c.1458A>G (p.Thr486=) rs1771522951
NM_012123.4(MTO1):c.1459C>T (p.Leu487=)
NM_012123.4(MTO1):c.1465+15A>T
NM_012123.4(MTO1):c.1465+18C>T
NM_012123.4(MTO1):c.1465+19C>T
NM_012123.4(MTO1):c.1466-10C>G
NM_012123.4(MTO1):c.1466-12T>G
NM_012123.4(MTO1):c.1466-17C>T
NM_012123.4(MTO1):c.1466-17_1466-16del rs751535994
NM_012123.4(MTO1):c.1466-4C>G
NM_012123.4(MTO1):c.1466-6C>G
NM_012123.4(MTO1):c.147T>C (p.Thr49=)
NM_012123.4(MTO1):c.1485T>C (p.Cys495=)
NM_012123.4(MTO1):c.1491C>T (p.Ser497=)
NM_012123.4(MTO1):c.1497A>G (p.Gln499=)
NM_012123.4(MTO1):c.1503T>C (p.Tyr501=)
NM_012123.4(MTO1):c.1512T>A (p.Ala504=)
NM_012123.4(MTO1):c.1548T>C (p.Ser516=)
NM_012123.4(MTO1):c.1566G>A (p.Glu522=)
NM_012123.4(MTO1):c.1570T>C (p.Leu524=)
NM_012123.4(MTO1):c.159C>G (p.Thr53=) rs761813265
NM_012123.4(MTO1):c.159C>T (p.Thr53=)
NM_012123.4(MTO1):c.1629G>T (p.Leu543=)
NM_012123.4(MTO1):c.1637+14A>G
NM_012123.4(MTO1):c.1638-10A>G
NM_012123.4(MTO1):c.1638-14T>C
NM_012123.4(MTO1):c.1638-15_1638-14del
NM_012123.4(MTO1):c.1638-16T>G
NM_012123.4(MTO1):c.1638-20A>C
NM_012123.4(MTO1):c.1644C>G (p.Leu548=)
NM_012123.4(MTO1):c.1644C>T (p.Leu548=)
NM_012123.4(MTO1):c.165C>G (p.Ala55=)
NM_012123.4(MTO1):c.1680A>C (p.Ser560=) rs1215865193
NM_012123.4(MTO1):c.1680A>G (p.Ser560=)
NM_012123.4(MTO1):c.1756+16del rs1305339840
NM_012123.4(MTO1):c.1756+17G>A rs1393237455
NM_012123.4(MTO1):c.1756+19C>T
NM_012123.4(MTO1):c.1757-11T>C
NM_012123.4(MTO1):c.1757-14A>T
NM_012123.4(MTO1):c.1757-20A>T
NM_012123.4(MTO1):c.1815T>C (p.Asp605=)
NM_012123.4(MTO1):c.1827A>G (p.Gln609=) rs1554150837
NM_012123.4(MTO1):c.1833A>C (p.Pro611=)
NM_012123.4(MTO1):c.183G>T (p.Arg61=) rs1582666277
NM_012123.4(MTO1):c.1840C>T (p.Leu614=) rs2150044988
NM_012123.4(MTO1):c.1860G>A (p.Arg620=)
NM_012123.4(MTO1):c.1866G>C (p.Val622=)
NM_012123.4(MTO1):c.187C>T (p.Leu63=)
NM_012123.4(MTO1):c.1911A>C (p.Pro637=)
NM_012123.4(MTO1):c.1911A>G (p.Pro637=)
NM_012123.4(MTO1):c.1917+10T>C
NM_012123.4(MTO1):c.1917+11A>G rs2150045068
NM_012123.4(MTO1):c.1918-14G>T rs2150046222
NM_012123.4(MTO1):c.1918-15_1918-13del rs2150046218
NM_012123.4(MTO1):c.1918-19T>C rs1554151114
NM_012123.4(MTO1):c.1918-20del
NM_012123.4(MTO1):c.1918-6_1918-5insCTAAAT
NM_012123.4(MTO1):c.1920C>T (p.Ile640=)
NM_012123.4(MTO1):c.1926T>A (p.Ala642=)
NM_012123.4(MTO1):c.1941C>T (p.Pro647=)
NM_012123.4(MTO1):c.1986G>A (p.Lys662=)
NM_012123.4(MTO1):c.1989C>T (p.Thr663=)
NM_012123.4(MTO1):c.1999A>C (p.Arg667=)
NM_012123.4(MTO1):c.217+19G>A
NM_012123.4(MTO1):c.217+20T>G
NM_012123.4(MTO1):c.218-11A>G rs1403769450
NM_012123.4(MTO1):c.218-13C>A
NM_012123.4(MTO1):c.218-14T>G
NM_012123.4(MTO1):c.218-15G>T
NM_012123.4(MTO1):c.240C>T (p.Ser80=)
NM_012123.4(MTO1):c.273G>A (p.Arg91=)
NM_012123.4(MTO1):c.276A>G (p.Glu92=) rs755181300
NM_012123.4(MTO1):c.27T>C (p.Arg9=) rs1327873376
NM_012123.4(MTO1):c.282T>C (p.Asp94=)
NM_012123.4(MTO1):c.285C>T (p.Ala95=)
NM_012123.4(MTO1):c.300T>C (p.Cys100=)
NM_012123.4(MTO1):c.312T>C (p.Cys104=)
NM_012123.4(MTO1):c.33C>T (p.Val11=) rs1430945976
NM_012123.4(MTO1):c.366G>A (p.Val122=)
NM_012123.4(MTO1):c.36G>T (p.Ala12=)
NM_012123.4(MTO1):c.375G>A (p.Leu125=)
NM_012123.4(MTO1):c.384G>A (p.Gln128=)
NM_012123.4(MTO1):c.390T>C (p.Asp130=)
NM_012123.4(MTO1):c.399C>G (p.Leu133=) rs994257546
NM_012123.4(MTO1):c.408G>A (p.Gln136=)
NM_012123.4(MTO1):c.417+12G>C
NM_012123.4(MTO1):c.417+14A>G
NM_012123.4(MTO1):c.417+17A>G
NM_012123.4(MTO1):c.417+7A>C
NM_012123.4(MTO1):c.417+7A>G rs199515593
NM_012123.4(MTO1):c.417+8T>C rs1367881712
NM_012123.4(MTO1):c.417+8T>G rs1367881712
NM_012123.4(MTO1):c.418-13T>A
NM_012123.4(MTO1):c.418-15A>G rs2150027379
NM_012123.4(MTO1):c.447T>G (p.Thr149=)
NM_012123.4(MTO1):c.453G>A (p.Gln151=)
NM_012123.4(MTO1):c.45C>T (p.Phe15=)
NM_012123.4(MTO1):c.535+17G>A
NM_012123.4(MTO1):c.536-11T>G
NM_012123.4(MTO1):c.536-19_536-18del rs2150031332
NM_012123.4(MTO1):c.536-3dup
NM_012123.4(MTO1):c.536-4T>G
NM_012123.4(MTO1):c.536-9G>A
NM_012123.4(MTO1):c.549A>C (p.Thr183=)
NM_012123.4(MTO1):c.612A>C (p.Gly204=)
NM_012123.4(MTO1):c.613T>C (p.Leu205=) rs1464415140
NM_012123.4(MTO1):c.621G>T (p.Thr207=)
NM_012123.4(MTO1):c.630A>G (p.Ala210=) rs2150031442
NM_012123.4(MTO1):c.660A>G (p.Gly220=)
NM_012123.4(MTO1):c.666T>C (p.Ala222=)
NM_012123.4(MTO1):c.672A>G (p.Thr224=)
NM_012123.4(MTO1):c.681G>A (p.Lys227=) rs781586985
NM_012123.4(MTO1):c.708G>A (p.Lys236=)
NM_012123.4(MTO1):c.762C>T (p.Asn254=) rs1771216320
NM_012123.4(MTO1):c.774G>T (p.Pro258=) rs748667460
NM_012123.4(MTO1):c.783A>G (p.Pro261=)
NM_012123.4(MTO1):c.813A>G (p.Thr271=)
NM_012123.4(MTO1):c.825+10_825+29del rs1177694932
NM_012123.4(MTO1):c.825+11T>C
NM_012123.4(MTO1):c.825+14C>T
NM_012123.4(MTO1):c.828A>G (p.Pro276=)
NM_012123.4(MTO1):c.840G>T (p.Leu280=) rs749351702
NM_012123.4(MTO1):c.846T>C (p.Cys282=)
NM_012123.4(MTO1):c.850T>C (p.Leu284=)
NM_012123.4(MTO1):c.882T>A (p.Ile294=)
NM_012123.4(MTO1):c.924G>A (p.Thr308=) rs962712902
NM_012123.4(MTO1):c.938+20G>T
NM_012123.4(MTO1):c.939-10T>C
NM_012123.4(MTO1):c.939-10del rs1064794699
NM_012123.4(MTO1):c.93G>A (p.Ala31=)
NM_012123.4(MTO1):c.96C>G (p.Pro32=) rs938648582
NM_012123.4(MTO1):c.987A>G (p.Leu329=)
NM_012123.4(MTO1):c.9C>T (p.Tyr3=)

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