List of variants reported as likely benign for mitochondrial complex V (ATP synthase) deficiency nuclear type 2

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 111

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HGVS	dbSNP	gnomAD frequency
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys)	rs35564486	0.00541
NM_017866.6(TMEM70):c.*571C>T	rs562758353	0.00262
NM_017866.6(TMEM70):c.211-6C>T	rs113669789	0.00230
NM_017866.6(TMEM70):c.69G>T (p.Leu23Phe)	rs140061938	0.00092
NM_017866.6(TMEM70):c.*1103C>T	rs747366040	0.00063
NM_017866.6(TMEM70):c.97C>A (p.Arg33=)	rs145329086	0.00048
NM_017866.6(TMEM70):c.*217A>C	rs140080854	0.00021
NM_017866.6(TMEM70):c.317-16T>C	rs113010559	0.00021
NM_017866.6(TMEM70):c.434A>G (p.Tyr145Cys)	rs111248269	0.00012
NM_017866.6(TMEM70):c.555T>G (p.Asn185Lys)	rs199655842	0.00009
NM_017866.6(TMEM70):c.654A>G (p.Ser218=)	rs540563357	0.00007
NM_017866.6(TMEM70):c.462C>A (p.Ile154=)	rs143954787	0.00006
NM_017866.6(TMEM70):c.738T>C (p.Tyr246=)	rs567090474	0.00006
NM_017866.6(TMEM70):c.42G>A (p.Leu14=)	rs747372086	0.00004
NM_017866.6(TMEM70):c.124A>G (p.Ser42Gly)	rs373992649	0.00003
NM_017866.6(TMEM70):c.211-11T>C	rs111260030	0.00003
NM_017866.6(TMEM70):c.456G>A (p.Thr152=)	rs534498599	0.00003
NM_017866.6(TMEM70):c.558T>C (p.Ala186=)	rs773685632	0.00003
NM_017866.6(TMEM70):c.84G>C (p.Ala28=)	rs780673904	0.00003
NM_017866.6(TMEM70):c.210+11C>G	rs928358741	0.00002
NM_017866.6(TMEM70):c.6G>C (p.Leu2=)	rs887707177	0.00002
NM_017866.6(TMEM70):c.117G>A (p.Ala39=)	rs774253391	0.00001
NM_017866.6(TMEM70):c.150C>T (p.Ala50=)	rs765486183	0.00001
NM_017866.6(TMEM70):c.183C>T (p.Arg61=)	rs1369561445	0.00001
NM_017866.6(TMEM70):c.211-14C>T	rs751628718	0.00001
NM_017866.6(TMEM70):c.211-19A>G	rs1283222145	0.00001
NM_017866.6(TMEM70):c.213C>A (p.Ile71=)	rs756480039	0.00001
NM_017866.6(TMEM70):c.364C>T (p.Leu122=)	rs751120235	0.00001
NM_017866.6(TMEM70):c.36C>A (p.Val12=)	rs775732442	0.00001
NM_017866.6(TMEM70):c.480C>T (p.His160=)	rs767141480	0.00001
NM_017866.6(TMEM70):c.48C>T (p.Leu16=)	rs1246053882	0.00001
NM_017866.6(TMEM70):c.675C>T (p.Leu225=)	rs139775930	0.00001
NM_017866.6(TMEM70):c.759G>A (p.Glu253=)	rs746272027	0.00001
NM_017866.6(TMEM70):c.*1153G>A	rs181595554
NM_017866.6(TMEM70):c.102C>T (p.Ala34=)
NM_017866.6(TMEM70):c.111C>T (p.Ser37=)
NM_017866.6(TMEM70):c.112C>A (p.Arg38=)
NM_017866.6(TMEM70):c.129C>T (p.Ser43=)
NM_017866.6(TMEM70):c.135T>C (p.Pro45=)
NM_017866.6(TMEM70):c.138G>A (p.Ser46=)
NM_017866.6(TMEM70):c.153C>A (p.Gly51=)	rs562374948
NM_017866.6(TMEM70):c.153C>T (p.Gly51=)
NM_017866.6(TMEM70):c.16T>C (p.Leu6=)
NM_017866.6(TMEM70):c.177C>T (p.Ala59=)
NM_017866.6(TMEM70):c.180G>C (p.Ala60=)
NM_017866.6(TMEM70):c.189C>T (p.Leu63=)
NM_017866.6(TMEM70):c.192G>A (p.Arg64=)
NM_017866.6(TMEM70):c.192G>T (p.Arg64=)
NM_017866.6(TMEM70):c.210+15G>A
NM_017866.6(TMEM70):c.210+17C>G
NM_017866.6(TMEM70):c.210+17C>T
NM_017866.6(TMEM70):c.210+18T>G	rs1815652688
NM_017866.6(TMEM70):c.210+8G>A	rs1586633936
NM_017866.6(TMEM70):c.210+8G>T
NM_017866.6(TMEM70):c.211-12C>T
NM_017866.6(TMEM70):c.211-13C>T
NM_017866.6(TMEM70):c.211-18T>C	rs2131233703
NM_017866.6(TMEM70):c.213C>T (p.Ile71=)
NM_017866.6(TMEM70):c.222T>C (p.Tyr74=)
NM_017866.6(TMEM70):c.258T>G (p.Ser86=)	rs1359962230
NM_017866.6(TMEM70):c.27G>C (p.Pro9=)
NM_017866.6(TMEM70):c.27G>T (p.Pro9=)
NM_017866.6(TMEM70):c.280C>T (p.Leu94=)
NM_017866.6(TMEM70):c.288T>C (p.Tyr96=)
NM_017866.6(TMEM70):c.309A>C (p.Ala103=)
NM_017866.6(TMEM70):c.316+14G>A	rs778535969
NM_017866.6(TMEM70):c.316+15G>T
NM_017866.6(TMEM70):c.316+19G>A
NM_017866.6(TMEM70):c.317-10T>C	rs1815782340
NM_017866.6(TMEM70):c.317-12T>G	rs1049768996
NM_017866.6(TMEM70):c.317-17_317-14del
NM_017866.6(TMEM70):c.317-23CT[2]
NM_017866.6(TMEM70):c.317-6A>G
NM_017866.6(TMEM70):c.317-7C>T
NM_017866.6(TMEM70):c.336T>C (p.Tyr112=)
NM_017866.6(TMEM70):c.339T>C (p.Ser113=)
NM_017866.6(TMEM70):c.342G>C (p.Thr114=)	rs2131236507
NM_017866.6(TMEM70):c.360A>G (p.Thr120=)
NM_017866.6(TMEM70):c.372C>T (p.Tyr124=)
NM_017866.6(TMEM70):c.393T>C (p.Ala131=)
NM_017866.6(TMEM70):c.405T>C (p.Ser135=)	rs2131236630
NM_017866.6(TMEM70):c.426C>T (p.Ile142=)
NM_017866.6(TMEM70):c.429A>T (p.Ile143=)
NM_017866.6(TMEM70):c.432C>T (p.Phe144=)	rs149499528
NM_017866.6(TMEM70):c.459G>C (p.Val153=)
NM_017866.6(TMEM70):c.483T>C (p.Phe161=)
NM_017866.6(TMEM70):c.501C>G (p.Val167=)
NM_017866.6(TMEM70):c.505C>A (p.Arg169=)
NM_017866.6(TMEM70):c.522C>A (p.Ala174=)
NM_017866.6(TMEM70):c.522C>T (p.Ala174=)	rs1586636816
NM_017866.6(TMEM70):c.537T>C (p.Tyr179=)
NM_017866.6(TMEM70):c.543C>T (p.Ala181=)
NM_017866.6(TMEM70):c.549C>T (p.Thr183=)
NM_017866.6(TMEM70):c.573G>A (p.Thr191=)
NM_017866.6(TMEM70):c.579A>G (p.Thr193=)
NM_017866.6(TMEM70):c.582G>A (p.Val194=)
NM_017866.6(TMEM70):c.588C>T (p.His196=)	rs199726326
NM_017866.6(TMEM70):c.58A>C (p.Arg20=)
NM_017866.6(TMEM70):c.606T>C (p.Ile202=)
NM_017866.6(TMEM70):c.618A>G (p.Lys206=)
NM_017866.6(TMEM70):c.66A>G (p.Ala22=)
NM_017866.6(TMEM70):c.675C>G (p.Leu225=)
NM_017866.6(TMEM70):c.67T>C (p.Leu23=)	rs1175563560
NM_017866.6(TMEM70):c.687T>G (p.Arg229=)
NM_017866.6(TMEM70):c.729T>C (p.Phe243=)
NM_017866.6(TMEM70):c.744A>G (p.Glu248=)	rs2131237166
NM_017866.6(TMEM70):c.75G>A (p.Ala25=)
NM_017866.6(TMEM70):c.75G>T (p.Ala25=)	rs754740259
NM_017866.6(TMEM70):c.765G>A (p.Arg255=)	rs2131237202
NM_017866.6(TMEM70):c.81C>T (p.Ala27=)
NM_017866.6(TMEM70):c.84G>T (p.Ala28=)	rs780673904

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