ClinVar Miner

List of variants studied for Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 by Invitae

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ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
NM_017866.6(TMEM70):c.777C>G (p.Asp259Glu) rs1053077 0.23539
NM_017866.6(TMEM70):c.748A>G (p.Thr250Ala) rs1053079 0.23525
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro) rs8075 0.17369
NM_017866.6(TMEM70):c.346C>G (p.Leu116Val) rs61732273 0.02073
NM_017866.6(TMEM70):c.379A>G (p.Thr127Ala) rs61734099 0.01433
NM_017866.6(TMEM70):c.580G>A (p.Val194Met) rs77410280 0.01045
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486 0.00541
NM_017866.6(TMEM70):c.211-6C>T rs113669789 0.00230
NM_017866.6(TMEM70):c.534T>C (p.Thr178=) rs139864454 0.00136
NM_017866.6(TMEM70):c.69G>T (p.Leu23Phe) rs140061938 0.00092
NM_017866.6(TMEM70):c.97C>A (p.Arg33=) rs145329086 0.00048
NM_017866.6(TMEM70):c.317-16T>C rs113010559 0.00021
NM_017866.6(TMEM70):c.730A>G (p.Ile244Val) rs151104827 0.00021
NM_017866.6(TMEM70):c.434A>G (p.Tyr145Cys) rs111248269 0.00012
NM_017866.6(TMEM70):c.128G>A (p.Ser43Asn) rs199815125 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_017866.6(TMEM70):c.341C>T (p.Thr114Met) rs760669698 0.00010
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.455C>T (p.Thr152Met) rs200820631 0.00006
NM_017866.6(TMEM70):c.462C>A (p.Ile154=) rs143954787 0.00006
NM_017866.6(TMEM70):c.533C>G (p.Thr178Ser) rs552453782 0.00006
NM_017866.6(TMEM70):c.70T>C (p.Cys24Arg) rs368936744 0.00006
NM_017866.6(TMEM70):c.738T>C (p.Tyr246=) rs567090474 0.00006
NM_017866.6(TMEM70):c.589C>A (p.Gln197Lys) rs775211044 0.00005
NM_017866.6(TMEM70):c.214C>T (p.Pro72Ser) rs143292919 0.00004
NM_017866.6(TMEM70):c.410C>T (p.Pro137Leu) rs201367229 0.00004
NM_017866.6(TMEM70):c.42G>A (p.Leu14=) rs747372086 0.00004
NM_017866.6(TMEM70):c.117_118dup (p.Ser40fs) rs796052056 0.00003
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.211-4A>G rs375362169 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.613G>T (p.Ala205Ser) rs146178894 0.00003
NM_017866.6(TMEM70):c.764G>A (p.Arg255Gln) rs149823637 0.00003
NM_017866.6(TMEM70):c.769A>T (p.Lys257Ter) rs200138286 0.00003
NM_017866.6(TMEM70):c.84G>C (p.Ala28=) rs780673904 0.00003
NM_017866.6(TMEM70):c.110C>G (p.Ser37Cys) rs762522077 0.00002
NM_017866.6(TMEM70):c.210+11C>G rs928358741 0.00002
NM_017866.6(TMEM70):c.251C>T (p.Thr84Met) rs756840242 0.00002
NM_017866.6(TMEM70):c.304C>T (p.Arg102Ter) rs774638624 0.00002
NM_017866.6(TMEM70):c.428T>G (p.Ile143Arg) rs780111064 0.00002
NM_017866.6(TMEM70):c.557C>T (p.Ala186Val) rs200311538 0.00002
NM_017866.6(TMEM70):c.6G>C (p.Leu2=) rs887707177 0.00002
NM_017866.6(TMEM70):c.770A>C (p.Lys257Thr) rs372716606 0.00002
NM_017866.6(TMEM70):c.780A>G (p.Lys260=) rs769667709 0.00002
NM_017866.6(TMEM70):c.10C>G (p.Leu4Val) rs779003036 0.00001
NM_017866.6(TMEM70):c.116C>G (p.Ala39Gly) rs770816150 0.00001
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.152G>T (p.Gly51Val) rs1251393091 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.232T>C (p.Tyr78His) rs369641521 0.00001
NM_017866.6(TMEM70):c.233A>G (p.Tyr78Cys) rs1432671715 0.00001
NM_017866.6(TMEM70):c.238C>T (p.Arg80Ter) rs387907070 0.00001
NM_017866.6(TMEM70):c.239G>A (p.Arg80Gln) rs376156875 0.00001
NM_017866.6(TMEM70):c.275G>T (p.Gly92Val) rs957760262 0.00001
NM_017866.6(TMEM70):c.298A>G (p.Met100Val) rs942928255 0.00001
NM_017866.6(TMEM70):c.314T>G (p.Phe105Cys) rs376101721 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.440T>C (p.Ile147Thr) rs201306262 0.00001
NM_017866.6(TMEM70):c.44C>T (p.Pro15Leu) rs768462177 0.00001
NM_017866.6(TMEM70):c.460A>T (p.Ile154Phe) rs1017176272 0.00001
NM_017866.6(TMEM70):c.48C>T (p.Leu16=) rs1246053882 0.00001
NM_017866.6(TMEM70):c.500T>C (p.Val167Ala) rs1010253072 0.00001
NM_017866.6(TMEM70):c.506G>A (p.Arg169Gln) rs752198525 0.00001
NM_017866.6(TMEM70):c.520G>A (p.Ala174Thr) rs1815793147 0.00001
NM_017866.6(TMEM70):c.523A>G (p.Thr175Ala) rs756982905 0.00001
NM_017866.6(TMEM70):c.649A>G (p.Lys217Glu) rs750215839 0.00001
NM_017866.6(TMEM70):c.675C>T (p.Leu225=) rs139775930 0.00001
NM_017866.6(TMEM70):c.677T>C (p.Phe226Ser) rs1815798828 0.00001
NM_017866.6(TMEM70):c.685C>A (p.Arg229Ser) rs367792607 0.00001
NM_017866.6(TMEM70):c.721G>A (p.Glu241Lys) rs762713721 0.00001
NM_017866.6(TMEM70):c.739A>G (p.Met247Val) rs1397722218 0.00001
NM_017866.6(TMEM70):c.740T>C (p.Met247Thr) rs753940409 0.00001
NM_017866.6(TMEM70):c.759G>A (p.Glu253=) rs746272027 0.00001
NM_017866.6(TMEM70):c.763C>T (p.Arg255Trp) rs1364312202 0.00001
NM_017866.6(TMEM70):c.85C>T (p.Leu29Phe) rs747425671 0.00001
NC_000008.10:g.(?_74888517)_(75276602_?)dup
NC_000008.10:g.(?_74890971)_(74891116_?)del
NC_000008.10:g.(?_74890971)_(74903809_?)del
NC_000008.11:g.(?_73976132)_(74367120_?)dup
NC_000008.11:g.(?_73976262)_(73981641_?)del
NM_017866.6(TMEM70):c.100dup (p.Ala34fs) rs1563697094
NM_017866.6(TMEM70):c.102C>T (p.Ala34=)
NM_017866.6(TMEM70):c.102_116dup (p.Ser40_Ser41insValSerArgAlaSer)
NM_017866.6(TMEM70):c.106G>A (p.Val36Ile)
NM_017866.6(TMEM70):c.11T>G (p.Leu4Arg) rs2131230721
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.144_167del (p.Val49_Pro56del)
NM_017866.6(TMEM70):c.148G>A (p.Ala50Thr) rs2131231062
NM_017866.6(TMEM70):c.153C>A (p.Gly51=) rs562374948
NM_017866.6(TMEM70):c.153C>T (p.Gly51=)
NM_017866.6(TMEM70):c.155G>C (p.Trp52Ser)
NM_017866.6(TMEM70):c.158G>C (p.Ser53Thr) rs1815650246
NM_017866.6(TMEM70):c.16T>C (p.Leu6=)
NM_017866.6(TMEM70):c.177C>T (p.Ala59=)
NM_017866.6(TMEM70):c.177dup (p.Ala60fs)
NM_017866.6(TMEM70):c.180G>C (p.Ala60=)
NM_017866.6(TMEM70):c.181C>A (p.Arg61Ser)
NM_017866.6(TMEM70):c.188T>G (p.Leu63Arg)
NM_017866.6(TMEM70):c.189C>T (p.Leu63=)
NM_017866.6(TMEM70):c.190C>T (p.Arg64Trp)
NM_017866.6(TMEM70):c.192G>A (p.Arg64=)
NM_017866.6(TMEM70):c.197del (p.Pro66fs) rs1376883697
NM_017866.6(TMEM70):c.210+15G>A
NM_017866.6(TMEM70):c.210+17C>T
NM_017866.6(TMEM70):c.210+18T>G rs1815652688
NM_017866.6(TMEM70):c.210+4G>A rs1815652294
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.211-2A>G
NM_017866.6(TMEM70):c.211-6_220del
NM_017866.6(TMEM70):c.211A>G (p.Ile71Val)
NM_017866.6(TMEM70):c.215C>T (p.Pro72Leu)
NM_017866.6(TMEM70):c.224G>A (p.Trp75Ter)
NM_017866.6(TMEM70):c.227A>G (p.Glu76Gly)
NM_017866.6(TMEM70):c.22_23delinsCC (p.Ser8Pro)
NM_017866.6(TMEM70):c.241T>G (p.Phe81Val)
NM_017866.6(TMEM70):c.24C>A (p.Ser8Arg) rs1215450178
NM_017866.6(TMEM70):c.258T>G (p.Ser86=) rs1359962230
NM_017866.6(TMEM70):c.260A>G (p.Asp87Gly) rs1815716476
NM_017866.6(TMEM70):c.268G>C (p.Glu90Gln) rs2131233810
NM_017866.6(TMEM70):c.26C>T (p.Pro9Leu)
NM_017866.6(TMEM70):c.271G>A (p.Asp91Asn) rs2131233820
NM_017866.6(TMEM70):c.272A>T (p.Asp91Val)
NM_017866.6(TMEM70):c.27G>C (p.Pro9=)
NM_017866.6(TMEM70):c.27G>T (p.Pro9=)
NM_017866.6(TMEM70):c.288T>C (p.Tyr96=)
NM_017866.6(TMEM70):c.293G>A (p.Gly98Asp)
NM_017866.6(TMEM70):c.296A>G (p.Asn99Ser)
NM_017866.6(TMEM70):c.2T>C (p.Met1Thr) rs1815641175
NM_017866.6(TMEM70):c.305G>A (p.Arg102Gln) rs1455207577
NM_017866.6(TMEM70):c.308C>T (p.Ala103Val)
NM_017866.6(TMEM70):c.309A>C (p.Ala103=)
NM_017866.6(TMEM70):c.30_31dup (p.Ala11fs)
NM_017866.6(TMEM70):c.315T>G (p.Phe105Leu)
NM_017866.6(TMEM70):c.316+14G>A rs778535969
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.326G>T (p.Cys109Phe) rs372219983
NM_017866.6(TMEM70):c.331T>C (p.Ser111Pro) rs1369144121
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.359del (p.Thr120fs) rs2131236556
NM_017866.6(TMEM70):c.360A>G (p.Thr120=)
NM_017866.6(TMEM70):c.368_369delinsTT (p.Pro123Leu) rs2131236578
NM_017866.6(TMEM70):c.368del (p.Pro123fs) rs2131236570
NM_017866.6(TMEM70):c.380C>G (p.Thr127Arg)
NM_017866.6(TMEM70):c.392C>G (p.Ala131Gly)
NM_017866.6(TMEM70):c.393T>C (p.Ala131=)
NM_017866.6(TMEM70):c.397T>G (p.Ser133Ala)
NM_017866.6(TMEM70):c.405T>C (p.Ser135=) rs2131236630
NM_017866.6(TMEM70):c.407T>C (p.Val136Ala) rs1171318510
NM_017866.6(TMEM70):c.409C>T (p.Pro137Ser) rs1563699651
NM_017866.6(TMEM70):c.415C>T (p.Pro139Ser)
NM_017866.6(TMEM70):c.418A>G (p.Ile140Val)
NM_017866.6(TMEM70):c.426C>T (p.Ile142=)
NM_017866.6(TMEM70):c.427A>G (p.Ile143Val) rs1815788537
NM_017866.6(TMEM70):c.429A>T (p.Ile143=)
NM_017866.6(TMEM70):c.432C>T (p.Phe144=) rs149499528
NM_017866.6(TMEM70):c.43C>T (p.Pro15Ser)
NM_017866.6(TMEM70):c.459G>C (p.Val153=)
NM_017866.6(TMEM70):c.483T>C (p.Phe161=)
NM_017866.6(TMEM70):c.492del (p.Gly165fs)
NM_017866.6(TMEM70):c.494G>A (p.Gly165Asp) rs121908743
NM_017866.6(TMEM70):c.497A>G (p.Tyr166Cys) rs1385467886
NM_017866.6(TMEM70):c.497_498del (p.Tyr166fs)
NM_017866.6(TMEM70):c.499G>A (p.Val167Ile) rs1554599426
NM_017866.6(TMEM70):c.500del (p.Val167fs) rs1426201422
NM_017866.6(TMEM70):c.501C>G (p.Val167=)
NM_017866.6(TMEM70):c.502A>G (p.Ile168Val)
NM_017866.6(TMEM70):c.505C>A (p.Arg169=)
NM_017866.6(TMEM70):c.505C>T (p.Arg169Ter)
NM_017866.6(TMEM70):c.515A>G (p.His172Arg)
NM_017866.6(TMEM70):c.522C>T (p.Ala174=) rs1586636816
NM_017866.6(TMEM70):c.532A>G (p.Thr178Ala)
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.554A>G (p.Asn185Ser) rs952309136
NM_017866.6(TMEM70):c.56GGA[1] (p.Arg20del) rs2131230816
NM_017866.6(TMEM70):c.572C>G (p.Thr191Arg)
NM_017866.6(TMEM70):c.572C>T (p.Thr191Met)
NM_017866.6(TMEM70):c.573G>A (p.Thr191=)
NM_017866.6(TMEM70):c.578_579del (p.Thr193fs) rs777501387
NM_017866.6(TMEM70):c.57G>C (p.Arg19Ser)
NM_017866.6(TMEM70):c.580G>T (p.Val194Leu) rs77410280
NM_017866.6(TMEM70):c.588C>G (p.His196Gln)
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.614C>T (p.Ala205Val)
NM_017866.6(TMEM70):c.618A>C (p.Lys206Asn)
NM_017866.6(TMEM70):c.661_664del (p.Val221fs) rs1398724262
NM_017866.6(TMEM70):c.66A>G (p.Ala22=)
NM_017866.6(TMEM70):c.67T>C (p.Leu23=) rs1175563560
NM_017866.6(TMEM70):c.67T>G (p.Leu23Val)
NM_017866.6(TMEM70):c.686G>A (p.Arg229His)
NM_017866.6(TMEM70):c.687T>G (p.Arg229=)
NM_017866.6(TMEM70):c.68T>G (p.Leu23Trp) rs1378455412
NM_017866.6(TMEM70):c.693C>G (p.Asp231Glu)
NM_017866.6(TMEM70):c.697A>T (p.Ile233Phe)
NM_017866.6(TMEM70):c.709G>T (p.Gly237Cys)
NM_017866.6(TMEM70):c.714T>A (p.Tyr238Ter) rs750224671
NM_017866.6(TMEM70):c.715G>C (p.Asp239His)
NM_017866.6(TMEM70):c.718A>C (p.Lys240Gln) rs1815800902
NM_017866.6(TMEM70):c.718A>T (p.Lys240Ter)
NM_017866.6(TMEM70):c.720_723del (p.Glu241fs) rs746973761
NM_017866.6(TMEM70):c.729T>C (p.Phe243=)
NM_017866.6(TMEM70):c.741G>A (p.Met247Ile) rs1190169356
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.773A>G (p.Asp258Gly)
NM_017866.6(TMEM70):c.777C>A (p.Asp259Glu)
NM_017866.6(TMEM70):c.779A>G (p.Lys260Arg)
NM_017866.6(TMEM70):c.77C>T (p.Ala26Val) rs757460663
NM_017866.6(TMEM70):c.782G>C (p.Ter261Ser) rs1330067430
NM_017866.6(TMEM70):c.81C>T (p.Ala27=)
NM_017866.6(TMEM70):c.84G>T (p.Ala28=) rs780673904
NM_017866.6(TMEM70):c.91G>A (p.Gly31Ser)
NM_017866.6(TMEM70):c.95C>G (p.Pro32Arg) rs2131230903

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