List of variants in gene combination POLG, POLGARF reported as likely pathogenic for mitochondrial DNA depletion syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 56

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.2698G>A (p.Ala900Thr)	rs935602068	0.00001
NM_002693.3(POLG):c.1024-1G>C	rs1567192203
NM_002693.3(POLG):c.1202G>A (p.Trp401Ter)
NM_002693.3(POLG):c.1250G>C (p.Arg417Thr)
NM_002693.3(POLG):c.130C>T (p.Gln44Ter)
NM_002693.3(POLG):c.1341_1342dup (p.Ala448fs)
NM_002693.3(POLG):c.1360G>T (p.Glu454Ter)
NM_002693.3(POLG):c.1418T>C (p.Leu473Pro)	rs1567191334
NM_002693.3(POLG):c.158_159insGC (p.Gln54fs)
NM_002693.3(POLG):c.160C>T (p.Gln54Ter)	rs774768199
NM_002693.3(POLG):c.1640_1641del (p.Ala547fs)
NM_002693.3(POLG):c.1712+2T>G
NM_002693.3(POLG):c.172C>T (p.Gln58Ter)	rs2055625602
NM_002693.3(POLG):c.1760_1765delinsTGGGCA (p.Pro587_Pro589delinsLeuGlyThr)
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)
NM_002693.3(POLG):c.1845_1846insTA (p.Glu616Ter)
NM_002693.3(POLG):c.1845dup (p.Glu616fs)
NM_002693.3(POLG):c.1944del (p.Tyr649fs)
NM_002693.3(POLG):c.2070+2T>G
NM_002693.3(POLG):c.2310C>A (p.Phe770Leu)	rs755315398
NM_002693.3(POLG):c.2391_2393del (p.Met797del)	rs1567187766
NM_002693.3(POLG):c.248T>C (p.Leu83Pro)	rs1567194243
NM_002693.3(POLG):c.2515del (p.Ala839fs)	rs1596352895
NM_002693.3(POLG):c.2589C>G (p.Ser863Arg)	rs1567187057
NM_002693.3(POLG):c.2665G>C (p.Ala889Pro)	rs763393580
NM_002693.3(POLG):c.2755A>G (p.Met919Val)
NM_002693.3(POLG):c.2768G>A (p.Gly923Asp)
NM_002693.3(POLG):c.2951_2954dup (p.Met985fs)
NM_002693.3(POLG):c.3161_3162del (p.Glu1054fs)
NM_002693.3(POLG):c.3229dup (p.Cys1077fs)
NM_002693.3(POLG):c.3242G>C (p.Arg1081Pro)	rs140079523
NM_002693.3(POLG):c.3277_3278del (p.Met1093fs)
NM_002693.3(POLG):c.3282del (p.Ser1095fs)	rs1596350117
NM_002693.3(POLG):c.3296G>A (p.Trp1099Ter)	rs2055345819
NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys)
NM_002693.3(POLG):c.3338T>C (p.Leu1113Pro)	rs1567185178
NM_002693.3(POLG):c.3528_3531del (p.Val1177fs)	rs1596348547
NM_002693.3(POLG):c.3528_3531dup (p.Ala1178fs)
NM_002693.3(POLG):c.3539dup (p.Ser1181fs)
NM_002693.3(POLG):c.3562T>C (p.Cys1188Arg)	rs754844175
NM_002693.3(POLG):c.3565dup (p.Leu1189fs)
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer)	rs1596348443
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs)	rs886043241
NM_002693.3(POLG):c.368T>G (p.Val123Gly)
NM_002693.3(POLG):c.470T>C (p.Leu157Pro)	rs1567194013
NM_002693.3(POLG):c.508del (p.Ala170fs)
NM_002693.3(POLG):c.659+1G>C
NM_002693.3(POLG):c.659+1G>T
NM_002693.3(POLG):c.660-2A>G	rs2141806882
NM_002693.3(POLG):c.740del (p.Leu247fs)
NM_002693.3(POLG):c.793_794del (p.Leu265fs)
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp)	rs1290567099
NM_002693.3(POLG):c.855+1G>C
NM_002693.3(POLG):c.884dup (p.Met295fs)
NM_002693.3(POLG):c.895A>C (p.Met299Leu)
NM_002693.3(POLG):c.934_935del (p.Trp312fs)

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