ClinVar Miner

List of variants reported as uncertain significance for Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 by Illumina Laboratory Services, Illumina

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Total variants: 38
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HGVS dbSNP gnomAD frequency
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.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.*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.*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.*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

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