List of variants reported as pathogenic for mitochondrial DNA depletion syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 59

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	rs11394094	0.00159
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	rs121918054	0.00096
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	rs113994097	0.00081
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	rs113994095	0.00068
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	rs113994098	0.00028
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)	rs144181978	0.00021
NM_002437.5(MPV17):c.186+2T>C	rs147952488	0.00012
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)	rs375401970	0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)	rs139590686	0.00008
NM_004614.5(TK2):c.416C>T (p.Ala139Val)	rs281865494	0.00008
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)	rs267607258	0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)	rs144500145	0.00006
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)	rs368435864	0.00006
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)	rs200440128	0.00005
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala)	rs121913036	0.00005
NM_080916.3(DGUOK):c.591G>A (p.Gln197=)	rs748597500	0.00005
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)	rs201889294	0.00004
NM_001953.5(TYMP):c.1160-1G>A	rs797044455	0.00004
NM_002693.3(POLG):c.1433+1G>A	rs771623994	0.00004
NM_002693.3(POLG):c.3104+3A>T	rs778573169	0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	rs121918044	0.00004
NM_080916.3(DGUOK):c.235C>T (p.Gln79Ter)	rs940941896	0.00004
NM_001278716.2(FBXL4):c.292C>T (p.Arg98Ter)	rs1554222130	0.00001
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser)	rs121913038	0.00001
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp)	rs121909723	0.00001
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp)	rs121918046	0.00001
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter)	rs1254855971	0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)	rs769827124	0.00001
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser)	rs121918050	0.00001
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro)	rs121918051	0.00001
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg)	rs142347031	0.00001
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn)	rs1131691575	0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp)	rs121918056	0.00001
NM_004614.5(TK2):c.133C>T (p.Gln45Ter)	rs281865486	0.00001
NM_004614.5(TK2):c.173A>G (p.Asn58Ser)	rs138439950	0.00001
NM_004614.5(TK2):c.588A>T (p.Arg196Ser)	rs752949191	0.00001
NM_080916.3(DGUOK):c.195G>A (p.Trp65Ter)	rs140307681	0.00001
NM_001278716.2(FBXL4):c.141del (p.Asn48fs)
NM_001278716.2(FBXL4):c.1641_1642del (p.Cys547_Asp548delinsTer)	rs765882664
NM_001278716.2(FBXL4):c.316C>T (p.Gln106Ter)	rs1554222122
NM_001953.5(TYMP):c.11del (p.Ala3_Leu4insTer)	rs764792655
NM_001953.5(TYMP):c.1327_1346del (p.Asp443fs)	rs1064792890
NM_001953.5(TYMP):c.798_801dup (p.Ala268fs)	rs761608162
NM_002437.5(MPV17):c.451dup (p.Leu151fs)	rs267607267
NM_002437.5(MPV17):c.461+1G>C
NM_002693.3(POLG):c.1345C>T (p.Gln449Ter)	rs1567191417
NM_002693.3(POLG):c.1356T>G (p.Tyr452Ter)
NM_002693.3(POLG):c.2125C>T (p.Arg709Ter)	rs867038717
NM_002693.3(POLG):c.2605C>T (p.Arg869Ter)	rs751376824
NM_002693.3(POLG):c.2674dup (p.Asp892fs)	rs1283198587
NM_002693.3(POLG):c.2794C>T (p.His932Tyr)	rs121918048
NM_002693.3(POLG):c.3643+2T>C	rs1335880349
NM_002693.3(POLG):c.925C>T (p.Arg309Cys)	rs886041592
NM_004614.5(TK2):c.144_145del (p.Lys50fs)	rs1454450104
NM_004614.5(TK2):c.1A>T (p.Met1Leu)	rs973152588
NM_004614.5(TK2):c.360_361delinsAA (p.His121Asn)	rs281865507
NM_004614.5(TK2):c.372_373delinsCT (p.Gln125Ter)	rs886039669
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter)	rs794727405
NM_130837.3(OPA1):c.2873_2876del	rs80356530

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