ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_004614.5(TK2):c.361C>A (p.His121Asn) rs137854429 0.00016
NM_004614.5(TK2):c.323C>T (p.Thr108Met) rs137854431 0.00013
NM_004614.5(TK2):c.415G>A (p.Ala139Thr) rs138479499 0.00013
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val) rs281865494 0.00008
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg) rs121913037 0.00007
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_002693.3(POLG):c.868C>T (p.Arg290Cys) rs753416225 0.00006
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) rs121909721 0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_004614.5(TK2):c.156+2T>C rs281865499 0.00003
NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser) rs749464475 0.00002
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683 0.00001
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter) rs1554222130 0.00001
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn) rs1064792861 0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002437.5(MPV17):c.70+5G>A rs267607268 0.00001
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp) rs121918046 0.00001
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln) rs796052888 0.00001
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser) rs121918050 0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala) rs1354582663 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_003850.3(SUCLA2):c.534+1G>A rs113994161 0.00001
NM_003850.3(SUCLA2):c.850C>T (p.Arg284Cys) rs121908538 0.00001
NM_004614.5(TK2):c.173A>G (p.Asn58Ser) rs138439950 0.00001
NM_004614.5(TK2):c.268C>T (p.Arg90Cys) rs281865489 0.00001
NM_021830.5(TWNK):c.967C>T (p.Arg323Ter) rs863223919 0.00001
NC_000002.11:g.(27535977_27545314)_(27545965_?)del
NM_001151.4(SLC25A4):c.523del (p.Gln175fs) rs863224209
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)
NM_001953.5(TYMP):c.518T>G (p.Met173Arg) rs1064792865
NM_001953.5(TYMP):c.829dup (p.Leu277fs)
NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu) rs1679497709
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002437.5(MPV17):c.280G>C (p.Gly94Arg) rs267607257
NM_002693.3(POLG):c.1760_1765delinsTGGGCA (p.Pro587_Pro589delinsLeuGlyThr)
NM_002693.3(POLG):c.2391G>T (p.Met797Ile) rs2152062357
NM_002693.3(POLG):c.2551A>G (p.Thr851Ala) rs775445970
NM_002693.3(POLG):c.2768G>A (p.Gly923Asp)
NM_002693.3(POLG):c.2794C>T (p.His932Tyr) rs121918048
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly) rs201732356
NM_004614.5(TK2):c.360_361delinsAA (p.His121Asn) rs281865507
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) rs137886900
NM_004614.5(TK2):c.604_606del (p.Lys202del) rs281865501
NM_004614.5(TK2):c.71_72insTT (p.Pro25fs) rs2144497920
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)
NM_080916.3(DGUOK):c.444-62C>A rs528587600

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