ClinVar Miner

List of variants in gene combination POLG, POLGARF 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: 53
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_002693.3(POLG):c.1120C>T (p.Arg374Ter) rs960142425 0.00001
NM_002693.3(POLG):c.163C>T (p.Gln55Ter) rs2055626123 0.00001
NM_002693.3(POLG):c.679C>T (p.Arg227Trp) rs121918056 0.00001
NM_002693.3(POLG):c.695G>A (p.Arg232His) rs113994093 0.00001
NM_002693.3(POLG):c.75G>A (p.Trp25Ter) rs1021719232 0.00001
NM_002693.3(POLG):c.110_119dup (p.Arg42fs)
NM_002693.3(POLG):c.1251-2A>T
NM_002693.3(POLG):c.1289T>C (p.Met430Thr) rs1567191474
NM_002693.3(POLG):c.1356T>G (p.Tyr452Ter)
NM_002693.3(POLG):c.136C>T (p.Gln46Ter)
NM_002693.3(POLG):c.145C>T (p.Gln49Ter)
NM_002693.3(POLG):c.1562del (p.Pro521fs) rs1567191094
NM_002693.3(POLG):c.157C>T (p.Gln53Ter)
NM_002693.3(POLG):c.172C>T (p.Gln58Ter) rs2055625602
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)
NM_002693.3(POLG):c.202C>T (p.Gln68Ter) rs202039305
NM_002693.3(POLG):c.2038del (p.Leu680fs) rs1567188632
NM_002693.3(POLG):c.2070+1G>A rs1567188588
NM_002693.3(POLG):c.2157+5_2157+6delinsAG rs1596354607
NM_002693.3(POLG):c.229C>T (p.Gln77Ter)
NM_002693.3(POLG):c.2426+1G>C rs1567187745
NM_002693.3(POLG):c.2480+1G>A rs1567187326
NM_002693.3(POLG):c.2543_2544dup (p.Thr849fs) rs1567187103
NM_002693.3(POLG):c.2617G>T (p.Glu873Ter) rs121918047
NM_002693.3(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.3(POLG):c.2662G>A (p.Gly888Ser) rs1567186787
NM_002693.3(POLG):c.268C>T (p.Gln90Ter) rs1473911378
NM_002693.3(POLG):c.2851T>A (p.Tyr951Asn) rs1567186591
NM_002693.3(POLG):c.287del (p.Gly96fs) rs2141815273
NM_002693.3(POLG):c.2901_2907del (p.Met967fs)
NM_002693.3(POLG):c.3057G>A (p.Trp1019Ter) rs1567185775
NM_002693.3(POLG):c.3067C>T (p.Gln1023Ter) rs1567185770
NM_002693.3(POLG):c.3149del (p.Lys1050fs) rs1567185603
NM_002693.3(POLG):c.3158_3159del (p.Thr1053fs) rs1332921412
NM_002693.3(POLG):c.3424dup (p.Arg1142fs) rs1555452453
NM_002693.3(POLG):c.3430_3433dup (p.Asp1145fs) rs1567185048
NM_002693.3(POLG):c.3447dup (p.Ala1150fs) rs1567185026
NM_002693.3(POLG):c.3490_3493dup (p.Ala1165fs) rs778115255
NM_002693.3(POLG):c.3572A>G (p.Lys1191Arg) rs1567183988
NM_002693.3(POLG):c.3626_3629dup (p.Tyr1210Ter)
NM_002693.3(POLG):c.380_386del (p.Leu127fs) rs1064794735
NM_002693.3(POLG):c.409C>T (p.Gln137Ter) rs1057517891
NM_002693.3(POLG):c.552_657del (p.Val185fs)
NM_002693.3(POLG):c.590_596del (p.Phe197fs)
NM_002693.3(POLG):c.624C>A (p.Cys208Ter) rs1159974816
NM_002693.3(POLG):c.646del (p.Ser216fs) rs1567193844
NM_002693.3(POLG):c.660G>A (p.Trp220Ter) rs1596360430
NM_002693.3(POLG):c.67_88del (p.Gly23fs) rs2055630470
NM_002693.3(POLG):c.698dup (p.Tyr233Ter) rs1567192884
NM_002693.3(POLG):c.705G>A (p.Trp235Ter) rs1567192879
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp) rs1290567099
NM_002693.3(POLG):c.951_961dup (p.Lys321fs) rs1596359629

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