ClinVar Miner

List of variants studied for mitochondrial complex V (ATP synthase) deficiency nuclear type 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017866.6(TMEM70):c.*24C>T rs7108 0.48050
NM_017866.6(TMEM70):c.*892A>G rs2291217 0.25319
NM_017866.6(TMEM70):c.-23C>T rs2306486 0.24480
NM_017866.6(TMEM70):c.777C>G (p.Asp259Glu) rs1053077 0.23539
NM_017866.6(TMEM70):c.*771G>A rs6472811 0.23535
NM_017866.6(TMEM70):c.748A>G (p.Thr250Ala) rs1053079 0.23525
NM_017866.6(TMEM70):c.*169A>G rs1053054 0.23523
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro) rs8075 0.17369
NM_017866.6(TMEM70):c.*785G>A rs66498650 0.03323
NM_017866.6(TMEM70):c.*904A>G rs59024088 0.02244
NM_017866.6(TMEM70):c.346C>G (p.Leu116Val) rs61732273 0.02073
NM_017866.6(TMEM70):c.*611T>G rs77116422 0.02056
NM_017866.6(TMEM70):c.*494T>C rs143011318 0.01502
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.*502C>A rs76016906 0.00608
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486 0.00541
NM_017866.6(TMEM70):c.*714G>A rs116019026 0.00540
NM_017866.6(TMEM70):c.-53G>A rs150775418 0.00270
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.*1052G>C rs73335823 0.00163
NM_017866.6(TMEM70):c.534T>C (p.Thr178=) rs139864454 0.00136
NM_017866.6(TMEM70):c.*21G>A rs374494665 0.00112
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.*942G>T rs531849936 0.00038
NM_017866.6(TMEM70):c.*413T>C rs759034954 0.00025
NM_017866.6(TMEM70):c.*217A>C rs140080854 0.00021
NM_017866.6(TMEM70):c.*425T>A rs149063225 0.00019
NM_017866.6(TMEM70):c.-15C>G rs371606877 0.00013
NM_017866.6(TMEM70):c.*239A>G rs147578337 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.*456T>G rs775732275 0.00010
NM_017866.6(TMEM70):c.555T>G (p.Asn185Lys) rs199655842 0.00009
NM_017866.6(TMEM70):c.*5A>G rs201064449 0.00007
NM_017866.6(TMEM70):c.*693C>T rs574729956 0.00006
NM_017866.6(TMEM70):c.462C>A (p.Ile154=) rs143954787 0.00006
NM_017866.6(TMEM70):c.*731C>T rs746055959 0.00004
NM_017866.6(TMEM70):c.*755C>T rs928499533 0.00004
NM_017866.6(TMEM70):c.*670T>C rs886063103 0.00003
NM_017866.6(TMEM70):c.-13C>A rs375946143 0.00003
NM_017866.6(TMEM70):c.*29G>A rs780620441 0.00002
NM_017866.6(TMEM70):c.*300A>G rs886063102 0.00002
NM_017866.6(TMEM70):c.*963A>G rs886063104 0.00002
NM_017866.6(TMEM70):c.210+11C>G rs928358741 0.00002
NM_017866.6(TMEM70):c.770A>C (p.Lys257Thr) rs372716606 0.00002
NM_017866.6(TMEM70):c.*1055A>G rs1380860147 0.00001
NM_017866.6(TMEM70):c.*18C>T rs757479728 0.00001
NM_017866.6(TMEM70):c.*196G>A rs886063101 0.00001
NM_017866.6(TMEM70):c.*531C>T rs904008344 0.00001
NM_017866.6(TMEM70):c.*657C>A rs774558050 0.00001
NM_017866.6(TMEM70):c.239G>A (p.Arg80Gln) rs376156875 0.00001
NM_017866.6(TMEM70):c.422A>G (p.Gln141Arg) rs769437093 0.00001
NM_017866.6(TMEM70):c.480C>T (p.His160=) rs767141480 0.00001
NM_017866.6(TMEM70):c.*1153G>A rs181595554
NM_017866.6(TMEM70):c.*178A>G rs1815810364
NM_017866.6(TMEM70):c.*706C>T rs749995139
NM_017866.6(TMEM70):c.*942G>C rs531849936
NM_017866.6(TMEM70):c.-39G>A rs200386494
NM_017866.6(TMEM70):c.-39G>T rs200386494
NM_017866.6(TMEM70):c.720_723del (p.Glu241fs) rs746973761
NM_017866.6(TMEM70):c.782G>C (p.Ter261Ser) rs1330067430

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.