List of variants reported as uncertain significance for Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 by Illumina Laboratory Services, Illumina

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

Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_005726.6(TSFM):c.24C>T (p.Arg8=)	rs138461986	0.00209
NM_005726.6(TSFM):c.*291T>C	rs191666277	0.00192
NM_005726.6(TSFM):c.797T>A (p.Leu266His)	rs146777264	0.00160
NM_005726.6(TSFM):c.*210G>A	rs112956536	0.00103
NM_005726.6(TSFM):c.69T>A (p.Leu23=)	rs147317818	0.00086
NM_005726.6(TSFM):c.760C>T (p.Arg254Cys)	rs200132571	0.00060
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala)	rs138534976	0.00045
NM_005726.6(TSFM):c.688G>T (p.Val230Leu)	rs151248026	0.00041
NM_005726.6(TSFM):c.814G>C (p.Asp272His)	rs138911653	0.00030
NM_005726.6(TSFM):c.*381C>T	rs528226687	0.00016
NM_005726.6(TSFM):c.361-12T>G	rs368313488	0.00016
NM_005726.6(TSFM):c.644C>T (p.Ser215Phe)	rs376562033	0.00011
NM_005726.6(TSFM):c.*412C>T	rs184926061	0.00010
NM_005726.6(TSFM):c.*262T>A	rs758314098	0.00008
NM_005726.6(TSFM):c.*176T>C	rs765248918	0.00006
NM_005726.6(TSFM):c.140A>G (p.Lys47Arg)	rs373659284	0.00006
NM_005726.6(TSFM):c.*182T>G	rs188261377	0.00003
NM_005726.6(TSFM):c.787A>T (p.Met263Leu)	rs764183902	0.00003
NM_005726.6(TSFM):c.816C>T (p.Asp272=)	rs183575246	0.00003
NM_005726.6(TSFM):c.*656A>G	rs985828528	0.00002
NM_005726.6(TSFM):c.322G>A (p.Gly108Arg)	rs374679403	0.00002
NM_006576.4(AVIL):c.*404T>C	rs58949411	0.00002
NM_005726.6(TSFM):c.*461T>C	rs886049733	0.00001
NM_005726.6(TSFM):c.*554A>G	rs144070678	0.00001
NM_005726.6(TSFM):c.361-14A>G	rs759604491	0.00001
NM_005726.6(TSFM):c.484-11C>T	rs752312466	0.00001
NM_005726.6(TSFM):c.48G>A (p.Gly16=)	rs780011862	0.00001
NM_005726.6(TSFM):c.520G>T (p.Ala174Ser)	rs886049731	0.00001
NM_006576.4(AVIL):c.*433A>C	rs1397583217	0.00001
NM_005726.6(TSFM):c.*20C>T	rs886049732
NM_005726.6(TSFM):c.*491G>A	rs1955751830
NM_005726.6(TSFM):c.*558C>T	rs1955752539
NM_005726.6(TSFM):c.*561A>C	rs886049734
NM_005726.6(TSFM):c.*98A>G	rs1955745507
NM_005726.6(TSFM):c.232-8A>G	rs768661125
NM_005726.6(TSFM):c.375A>G (p.Thr125=)	rs886049730
NM_005726.6(TSFM):c.408G>A (p.Leu136=)	rs144109380

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