ClinVar Miner

List of variants in gene combination LOC130067862, SCO2, TYMP reported as pathogenic for mitochondrial DNA depletion syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00004
NM_001953.5(TYMP):c.1159+1G>A rs1044840059 0.00003
NM_001953.5(TYMP):c.1159G>A (p.Gly387Ser) rs1060499534 0.00001
NM_001953.5(TYMP):c.1300+1G>A rs1064792878 0.00001
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.1010_1019delinsAA (p.Gly337fs) rs1064792892
NM_001953.5(TYMP):c.1048C>T (p.Gln350Ter) rs765023287
NM_001953.5(TYMP):c.1067T>C (p.Leu356Pro) rs1060499532
NM_001953.5(TYMP):c.1088del (p.Gly363fs) rs1060499535
NM_001953.5(TYMP):c.1112T>C (p.Leu371Pro) rs1060499533
NM_001953.5(TYMP):c.1159+2T>A rs770277446
NM_001953.5(TYMP):c.1160-1G>C rs797044455
NM_001953.5(TYMP):c.1160-2A>C rs1064792877
NM_001953.5(TYMP):c.1160-2A>G rs1064792877
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp) rs1064792873
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del) rs786205098
NM_001953.5(TYMP):c.1198_1203del (p.Val400_Leu401del) rs1027855768
NM_001953.5(TYMP):c.1211dup (p.Gly405fs) rs1556486467
NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser) rs1064792874
NM_001953.5(TYMP):c.1300+2T>A rs1064792879
NM_001953.5(TYMP):c.1301-1G>A rs773785934
NM_001953.5(TYMP):c.1311del (p.Trp437fs) rs1064792889
NM_001953.5(TYMP):c.1327_1346del (p.Asp443fs) rs1064792890
NM_001953.5(TYMP):c.1351dup (p.Gln451fs) rs1556486029
NM_001953.5(TYMP):c.1360G>C (p.Ala454Pro) rs764275775
NM_001953.5(TYMP):c.1395_1400del (p.Pro466_Phe467del) rs1064792891
NM_001953.5(TYMP):c.1410dup (p.Ser471fs) rs786205097
NM_001953.5(TYMP):c.1412C>A (p.Ser471Ter) rs11479
NM_001953.5(TYMP):c.1431dup (p.Leu478fs) rs1064792885
NM_001953.5(TYMP):c.994_1011dup (p.Gly337_Ser338insAlaAlaLeuAspAspGly) rs1064792881

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.