ClinVar Miner

List of variants reported as likely pathogenic for mitochondrial DNA depletion syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_003849.4(SUCLG1):c.548T>C (p.Ile183Thr) rs140626260 0.00002
NM_003849.4(SUCLG1):c.825+1G>A rs750388794 0.00002
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln) rs764287987 0.00001
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln) rs796052888 0.00001
NM_002693.3(POLG):c.2799T>G (p.Ser933Arg) rs765916932 0.00001
NM_002693.3(POLG):c.3104+2T>A rs747632869 0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala) rs1354582663 0.00001
NM_002693.3(POLG):c.3408G>C (p.Glu1136Asp) rs755725702 0.00001
NM_002693.3(POLG):c.3483-4_3497del rs756325504 0.00001
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn) rs149921636 0.00001
NM_002693.3(POLG):c.730C>G (p.Leu244Val) rs367959489 0.00001
NC_000002.11:g.(?_84650870)_(84652747_?)del
NC_000007.13:g.(?_141292926)_(141293005_?)dup
NM_002693.3(POLG):c.1023+1G>A
NM_002693.3(POLG):c.1171-2A>G
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.3(POLG):c.1400C>A (p.Ala467Asp)
NM_002693.3(POLG):c.1789C>G (p.Arg597Gly) rs139717885
NM_002693.3(POLG):c.1874C>G (p.Pro625Arg)
NM_002693.3(POLG):c.1942C>T (p.Pro648Ser)
NM_002693.3(POLG):c.1942_1943delinsAG (p.Pro648Ser)
NM_002693.3(POLG):c.1950-1G>A
NM_002693.3(POLG):c.1950-2A>G rs2152063472
NM_002693.3(POLG):c.2262C>G (p.His754Gln) rs1567188178
NM_002693.3(POLG):c.2265+1G>A
NM_002693.3(POLG):c.2266-1G>A rs2152062443
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg) rs1567187837
NM_002693.3(POLG):c.2341G>A (p.Ala781Thr)
NM_002693.3(POLG):c.2341G>C (p.Ala781Pro)
NM_002693.3(POLG):c.2426+1G>A
NM_002693.3(POLG):c.2480+2T>C
NM_002693.3(POLG):c.2539G>A (p.Ala847Thr) rs750203541
NM_002693.3(POLG):c.2552C>A (p.Thr851Asn)
NM_002693.3(POLG):c.2552C>G (p.Thr851Ser)
NM_002693.3(POLG):c.2555G>A (p.Arg852His) rs1567187093
NM_002693.3(POLG):c.2557C>G (p.Arg853Gly)
NM_002693.3(POLG):c.2585C>T (p.Ala862Val) rs2152061668
NM_002693.3(POLG):c.2598+1G>A
NM_002693.3(POLG):c.2598+2T>C rs1596352762
NM_002693.3(POLG):c.2639C>A (p.Ala880Asp)
NM_002693.3(POLG):c.2666C>T (p.Ala889Val)
NM_002693.3(POLG):c.2740A>G (p.Thr914Ala)
NM_002693.3(POLG):c.2788G>A (p.Asp930Asn)
NM_002693.3(POLG):c.2789A>G (p.Asp930Gly)
NM_002693.3(POLG):c.2797A>C (p.Ser933Arg)
NM_002693.3(POLG):c.2798G>A (p.Ser933Asn)
NM_002693.3(POLG):c.2858G>A (p.Arg953His) rs1567186581
NM_002693.3(POLG):c.2981+1G>C
NM_002693.3(POLG):c.2981+2T>G rs775260762
NM_002693.3(POLG):c.2982-1G>A
NM_002693.3(POLG):c.3104+1G>T
NM_002693.3(POLG):c.3104+2_3104+5del rs761664802
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp) rs121918049
NM_002693.3(POLG):c.3152G>A (p.Gly1051Glu) rs775248939
NM_002693.3(POLG):c.3152G>C (p.Gly1051Ala)
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly) rs201732356
NM_002693.3(POLG):c.3287G>T (p.Arg1096Leu) rs368435864
NM_002693.3(POLG):c.3305A>C (p.Gln1102Pro)
NM_002693.3(POLG):c.3328C>A (p.His1110Asn)
NM_002693.3(POLG):c.3328C>T (p.His1110Tyr) rs2152058760
NM_002693.3(POLG):c.3400C>T (p.His1134Tyr)
NM_002693.3(POLG):c.3402T>G (p.His1134Gln)
NM_002693.3(POLG):c.3483-2A>G rs1057518035
NM_002693.3(POLG):c.3483-7_3509del
NM_002693.3(POLG):c.3543T>A (p.Ser1181Arg)
NM_002693.3(POLG):c.3551A>G (p.Asp1184Gly)
NM_002693.3(POLG):c.659+1G>T
NM_002693.3(POLG):c.660-2A>G rs2141806882
NM_002693.3(POLG):c.730C>T (p.Leu244Phe)
NM_003849.4(SUCLG1):c.319-1G>A
NM_003849.4(SUCLG1):c.673+1G>C
NM_003849.4(SUCLG1):c.826-1G>A
NM_003850.3(SUCLA2):c.1108-1G>A
NM_018238.4(AGK):c.1047-2A>T rs886041491
NM_018238.4(AGK):c.1150_1154del (p.Phe383_Ser384insTer)
NM_018238.4(AGK):c.222-2A>C
NM_018238.4(AGK):c.390+1G>A rs777096695
NM_018238.4(AGK):c.519-1G>A
NM_018238.4(AGK):c.519-2A>G
NM_018238.4(AGK):c.976-1G>C

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