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

Minimum submission review status:		Collection method:
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: 41

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HGVS	dbSNP	gnomAD frequency
NM_020745.4(AARS2):c.750-5G>A	rs78410483	0.00739
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser)	rs139372744	0.00220
NM_020745.4(AARS2):c.1621G>A (p.Glu541Lys)	rs142094090	0.00087
NM_020745.4(AARS2):c.1649G>C (p.Gly550Ala)	rs79962181	0.00087
NM_020745.4(AARS2):c.1534G>C (p.Asp512His)	rs146512155	0.00073
NM_020745.4(AARS2):c.2598+11G>A	rs376223052	0.00073
NM_020745.4(AARS2):c.1660C>T (p.Arg554Cys)	rs146924860	0.00060
NM_020745.4(AARS2):c.533C>T (p.Ala178Val)	rs200343365	0.00043
NM_020745.4(AARS2):c.1569C>T (p.Ser523=)	rs374173311	0.00042
NM_020745.4(AARS2):c.2683-10C>T	rs372088350	0.00021
NM_020745.4(AARS2):c.1157C>T (p.Ala386Val)	rs143271585	0.00019
NM_020745.4(AARS2):c.2551C>G (p.Leu851Val)	rs376103315	0.00014
NM_020745.4(AARS2):c.785G>A (p.Arg262Gln)	rs139974034	0.00014
NM_020745.4(AARS2):c.*9C>T	rs772455600	0.00012
NM_020745.4(AARS2):c.435+9C>T	rs199955037	0.00009
NM_020745.4(AARS2):c.679G>A (p.Asp227Asn)	rs765016818	0.00009
NM_020745.4(AARS2):c.940G>A (p.Glu314Lys)	rs546851135	0.00009
NM_020745.4(AARS2):c.82C>G (p.Arg28Gly)	rs758360552	0.00008
NM_020745.4(AARS2):c.2266C>T (p.Arg756Cys)	rs753324375	0.00007
NM_020745.4(AARS2):c.761G>C (p.Gly254Ala)	rs199919912	0.00007
NM_020745.4(AARS2):c.1474T>C (p.Leu492=)	rs141076788	0.00006
NM_020745.4(AARS2):c.1533C>T (p.Asp511=)	rs372094957	0.00006
NM_020745.4(AARS2):c.1444C>T (p.Arg482Trp)	rs749519355	0.00005
NM_020745.4(AARS2):c.60C>T (p.Pro20=)	rs781361302	0.00004
NM_020745.4(AARS2):c.1191C>T (p.Ile397=)	rs745806197	0.00003
NM_020745.4(AARS2):c.2132G>A (p.Arg711His)	rs752743037	0.00003
NM_020745.4(AARS2):c.2561G>A (p.Arg854His)	rs751611980	0.00003
NM_020745.4(AARS2):c.2679C>T (p.Leu893=)	rs766642839	0.00003
NM_020745.4(AARS2):c.872C>T (p.Pro291Leu)	rs199985183	0.00003
NM_020745.4(AARS2):c.967G>A (p.Val323Met)	rs770774995	0.00003
NM_020745.4(AARS2):c.1873C>T (p.Arg625Cys)	rs756662327	0.00002
NM_020745.4(AARS2):c.2221G>A (p.Ala741Thr)	rs536579476	0.00002
NM_020745.4(AARS2):c.2146-11C>T	rs886061487	0.00001
NM_020745.4(AARS2):c.2683-1G>T	rs374185049	0.00001
NM_020745.4(AARS2):c.1040+1G>A	rs1561941287
NM_020745.4(AARS2):c.1644C>T (p.Ser548=)	rs377764395
NM_020745.4(AARS2):c.1846G>A (p.Val616Met)
NM_020745.4(AARS2):c.2701C>T (p.Arg901Trp)	rs145086947
NM_020745.4(AARS2):c.2794G>A (p.Gly932Ser)	rs886061485
NM_020745.4(AARS2):c.2937C>G (p.Thr979=)	rs200778121
NM_020745.4(AARS2):c.31_39del (p.Leu12_Arg14del)	rs562829310

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