ClinVar Miner

List of variants in gene combination AARS2, POLR1C reported as uncertain significance for combined oxidative phosphorylation deficiency

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_020745.4(AARS2):c.*718C>A rs140359685 0.00491
NM_020745.4(AARS2):c.*394C>A rs545769603 0.00183
NM_020745.4(AARS2):c.*997G>T rs146753959 0.00181
NM_020745.4(AARS2):c.*982G>A rs192274662 0.00158
NM_020745.4(AARS2):c.*448G>T rs565803591 0.00157
NM_020745.4(AARS2):c.*256A>G rs182434401 0.00144
NM_020745.4(AARS2):c.*627G>A rs539810987 0.00085
NM_020745.4(AARS2):c.*1811C>T rs546498237 0.00019
NM_020745.4(AARS2):c.*408G>C rs780339845 0.00019
NM_020745.4(AARS2):c.*1473del rs766302064 0.00016
NM_020745.4(AARS2):c.*1293A>G rs1054092802 0.00015
NM_020745.4(AARS2):c.*753C>G rs751745102 0.00013
NM_020745.4(AARS2):c.2162T>C (p.Val721Ala) rs775065697 0.00013
NM_020745.4(AARS2):c.*1706C>T rs767571924 0.00009
NM_020745.4(AARS2):c.*1310T>C rs553722790 0.00008
NM_020745.4(AARS2):c.*1471C>T rs996356800 0.00006
NM_020745.4(AARS2):c.*1197C>T rs1009499618 0.00005
NM_020745.4(AARS2):c.*752G>C rs1027113180 0.00005
NM_020745.4(AARS2):c.*317G>A rs1468335658 0.00003
NM_020745.4(AARS2):c.1434+7G>A rs953512104 0.00003
NM_020745.4(AARS2):c.22G>T (p.Ala8Ser) rs886061491 0.00003
NM_020745.4(AARS2):c.*51T>C rs765200517 0.00002
NM_020745.4(AARS2):c.2297T>G (p.Ile766Ser) rs200410313 0.00002
NM_020745.4(AARS2):c.915C>T (p.Tyr305=) rs778966995 0.00002
NM_020745.4(AARS2):c.*1485G>A rs886061481 0.00001
NM_020745.4(AARS2):c.*262T>C rs886061484 0.00001
NM_020745.4(AARS2):c.1788T>C (p.Cys596=) rs201849519 0.00001
NM_020745.4(AARS2):c.2005C>A (p.Gln669Lys) rs781702000 0.00001
NM_020745.4(AARS2):c.2032C>T (p.Arg678Trp) rs751523537 0.00001
NM_020745.4(AARS2):c.2671G>A (p.Glu891Lys) rs779053083 0.00001
NM_020745.4(AARS2):c.268G>C (p.Val90Leu) rs863223860 0.00001
NM_020745.4(AARS2):c.2860G>A (p.Ala954Thr) rs771293152 0.00001
NM_020745.4(AARS2):c.426A>G (p.Glu142=) rs779650766 0.00001
NM_020745.4(AARS2):c.*1045G>A rs527281365
NM_020745.4(AARS2):c.*1112dup rs112521684
NM_020745.4(AARS2):c.*1252A>C rs886061482
NM_020745.4(AARS2):c.*1284_*1287del rs201274623
NM_020745.4(AARS2):c.*1326A>G rs370057942
NM_020745.4(AARS2):c.*1536G>C rs548185310
NM_020745.4(AARS2):c.*1549C>T rs886061480
NM_020745.4(AARS2):c.*155C>T rs1785260425
NM_020745.4(AARS2):c.*1603C>G rs886061479
NM_020745.4(AARS2):c.*1720C>T rs140886261
NM_020745.4(AARS2):c.*279G>A rs886061483
NM_020745.4(AARS2):c.*683C>G rs764440099
NM_020745.4(AARS2):c.1041G>A (p.Pro347=) rs1258430421
NM_020745.4(AARS2):c.1049T>C (p.Leu350Pro) rs1785916519
NM_020745.4(AARS2):c.1682G>C (p.Arg561Thr) rs886061488
NM_020745.4(AARS2):c.2202G>A (p.Leu734=) rs886061486
NM_020745.4(AARS2):c.25G>A (p.Ala9Thr) rs537231845
NM_020745.4(AARS2):c.2636C>G (p.Ser879Trp) rs770826503
NM_020745.4(AARS2):c.2701C>G (p.Arg901Gly) rs145086947
NM_020745.4(AARS2):c.408T>C (p.Asn136=) rs886061490
NM_020745.4(AARS2):c.472C>A (p.Gln158Lys) rs759138272
NM_020745.4(AARS2):c.57G>C (p.Ser19=) rs1049916671
NM_020745.4(AARS2):c.649C>T (p.Pro217Ser) rs1786310363
NM_020745.4(AARS2):c.750-9C>T rs1786252044
NM_020745.4(AARS2):c.879C>T (p.Leu293=) rs886061489

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