List of variants in gene MTRR reported as likely benign for homocystinuria

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 481

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HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.288C>T (p.Leu96=)	rs35587995	0.00500
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.1544C>T (p.Ala515Val)	rs16879355	0.00145
NM_002454.3(MTRR):c.144C>T (p.Thr48=)	rs138612190	0.00120
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.1058-16G>A	rs201644712	0.00056
NM_002454.3(MTRR):c.958A>G (p.Ser320Gly)	rs199762141	0.00044
NM_002454.3(MTRR):c.906T>C (p.Asn302=)	rs144729918	0.00025
NM_002454.3(MTRR):c.904-4C>G	rs370809675	0.00018
NM_002454.3(MTRR):c.138A>G (p.Leu46=)	rs200682655	0.00013
NM_002454.3(MTRR):c.198C>T (p.Pro66=)	rs776410065	0.00011
NM_002454.3(MTRR):c.904-19dup	rs1554003810	0.00010
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.21A>G (p.Leu7=)	rs114427781	0.00007
NM_002454.3(MTRR):c.519A>G (p.Ala173=)	rs776844185	0.00007
NM_002454.3(MTRR):c.1370+18C>T	rs374485961	0.00006
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.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.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.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.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.129+20A>T	rs758051759	0.00002
NM_002454.3(MTRR):c.1317T>C (p.Ser439=)	rs756279354	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.1641C>T (p.Thr547=)	rs1044675786	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.459T>C (p.His153=)	rs1485372093	0.00002
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.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.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.1257T>C (p.Asp419=)	rs1292824472	0.00001
NM_002454.3(MTRR):c.1266C>T (p.Ala422=)	rs981600908	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.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.1593C>T (p.His531=)	rs778082216	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.1764A>G (p.Leu588=)	rs766927577	0.00001
NM_002454.3(MTRR):c.1769+8A>G	rs892239997	0.00001
NM_002454.3(MTRR):c.1791T>C (p.Leu597=)	rs767659059	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.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.303C>T (p.Tyr101=)	rs1748681766	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+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.498A>G (p.Ala166=)	rs747865209	0.00001
NM_002454.3(MTRR):c.504G>A (p.Pro168=)	rs746183496	0.00001
NM_002454.3(MTRR):c.588C>T (p.Phe196=)	rs776897289	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.708A>G (p.Ser236=)	rs372700667	0.00001
NM_002454.3(MTRR):c.744A>G (p.Glu248=)	rs749341418	0.00001
NM_002454.3(MTRR):c.807A>G (p.Ser269=)	rs1348478237	0.00001
NM_002454.3(MTRR):c.84A>G (p.Val28=)	rs1045121482	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
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.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.1066T>C (p.Leu356=)	rs2126751152
NM_002454.3(MTRR):c.1071C>T (p.Pro357=)
NM_002454.3(MTRR):c.1074G>A (p.Gln358=)	rs1561229685
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.1113C>T (p.Thr371=)
NM_002454.3(MTRR):c.1125A>G (p.Glu375=)	rs1425446891
NM_002454.3(MTRR):c.1140T>C (p.Pro380=)
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.1147-11C>G	rs1015760904
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.1182C>T (p.Asp394=)
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.1212G>T (p.Leu404=)	rs2126771253
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.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.130-20T>G
NM_002454.3(MTRR):c.130-4G>A	rs201823283
NM_002454.3(MTRR):c.1314C>T (p.Leu438=)
NM_002454.3(MTRR):c.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+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>C (p.Tyr44=)
NM_002454.3(MTRR):c.1350C>T (p.Pro450=)
NM_002454.3(MTRR):c.1356A>G (p.Pro452=)
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.1371-4G>T	rs2126793044
NM_002454.3(MTRR):c.1371-8C>G	rs2126793017
NM_002454.3(MTRR):c.1386C>T (p.His462=)
NM_002454.3(MTRR):c.1395G>A (p.Lys465=)	rs2126793201
NM_002454.3(MTRR):c.1425T>C (p.Phe475=)	rs1737829430
NM_002454.3(MTRR):c.1428G>A (p.Leu476=)
NM_002454.3(MTRR):c.1431T>G (p.Ser477=)	rs896702427
NM_002454.3(MTRR):c.1452G>A (p.Leu484=)	rs2126793535
NM_002454.3(MTRR):c.1473C>T (p.Gly491=)
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.1506G>A (p.Gln502=)
NM_002454.3(MTRR):c.1524C>T (p.Ser508=)
NM_002454.3(MTRR):c.1545C>T (p.Ala515=)
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.1558-8T>C	rs2126807577
NM_002454.3(MTRR):c.1560A>C (p.Ile520=)
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.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.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.1614C>T (p.Ile538=)	rs2126807956
NM_002454.3(MTRR):c.1620C>T (p.Ile540=)
NM_002454.3(MTRR):c.162T>C (p.Val54=)	rs2126662749
NM_002454.3(MTRR):c.1632T>C (p.Gly544=)
NM_002454.3(MTRR):c.1644C>T (p.Gly548=)
NM_002454.3(MTRR):c.1650C>T (p.Ala550=)	rs2126808168
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.1674T>C (p.His558=)
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.1677-20C>T
NM_002454.3(MTRR):c.1677-4T>C
NM_002454.3(MTRR):c.1677-7dup
NM_002454.3(MTRR):c.1680G>A (p.Glu560=)	rs2126812708
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.171T>A (p.Val57=)	rs2126662820
NM_002454.3(MTRR):c.1728G>A (p.Leu576=)
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.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+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.1779C>G (p.Leu593=)
NM_002454.3(MTRR):c.177C>T (p.Thr59=)
NM_002454.3(MTRR):c.1788C>T (p.Phe596=)
NM_002454.3(MTRR):c.1794G>A (p.Lys598=)	rs2126814001
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.1824C>G (p.Ser608=)
NM_002454.3(MTRR):c.1839T>A (p.Ala613=)	rs2126814313
NM_002454.3(MTRR):c.183C>T (p.Gly61=)
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>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.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.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.1956T>C (p.Asp652=)	rs765283033
NM_002454.3(MTRR):c.195A>G (p.Pro65=)	rs1166869664
NM_002454.3(MTRR):c.1962G>A (p.Lys654=)
NM_002454.3(MTRR):c.1971C>T (p.Ala657=)
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.2001A>T (p.Ile667=)	rs1186554585
NM_002454.3(MTRR):c.2016T>C (p.Val672=)	rs1162603124
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.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.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.261T>C (p.Ala87=)	rs138167806
NM_002454.3(MTRR):c.264C>T (p.His88=)	rs770540418
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+9C>T	rs2126663981
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.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.324G>A (p.Gly108=)
NM_002454.3(MTRR):c.333T>C (p.Ile111=)	rs2126675587
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.354T>G (p.Leu118=)	rs1465852233
NM_002454.3(MTRR):c.360C>T (p.Ala120=)
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.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.402-18T>C
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.456G>A (p.Lys152=)	rs1734864252
NM_002454.3(MTRR):c.462T>C (p.Phe154=)	rs2126693127
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.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.558C>T (p.His186=)
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.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.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.654T>C (p.Asn218=)	rs770060665
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.735A>G (p.Leu245=)	rs1343821146
NM_002454.3(MTRR):c.738C>T (p.Pro246=)
NM_002454.3(MTRR):c.753G>A (p.Gln251=)
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.781-4C>T	rs1057521905
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.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.849A>G (p.Gln283=)	rs1464577162
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.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.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+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.904-20_904-19insTTC	rs1554003809
NM_002454.3(MTRR):c.904-3dup	rs764339809
NM_002454.3(MTRR):c.904-4C>A
NM_002454.3(MTRR):c.909A>G (p.Thr303=)	rs747851597
NM_002454.3(MTRR):c.915T>C (p.Phe305=)
NM_002454.3(MTRR):c.924G>A (p.Gln308=)
NM_002454.3(MTRR):c.930A>C (p.Gly310=)	rs2126744786
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.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.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.99A>C (p.Ala33=)	rs1747850617

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