ClinVar Miner

List of variants reported as likely benign for Mitochondrial complex IV deficiency, nuclear type 1 by Illumina Laboratory Services, Illumina

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001303.3(COX10):c.-109G>A rs28680987 0.15186
NM_001136193.2(FASTKD2):c.*1475dup rs111441789 0.11989
NM_001863.4(COX6B1):c.-145G>A rs10420252 0.09679
NM_001303.4(COX10):c.33C>T (p.Arg11=) rs8076787 0.05496
NM_005138.3(SCO2):c.582C>T (p.Ser194=) rs131811 0.05449
NM_004589.4(SCO1):c.172C>T (p.Pro58Ser) rs1802083 0.05390
NC_000017.11:g.10697578C>A rs2520169 0.04792
NM_004589.4(SCO1):c.*310C>T rs2662957 0.04323
NM_004589.4(SCO1):c.*272T>C rs2662956 0.04198
NM_004589.4(SCO1):c.594A>G (p.Pro198=) rs2271228 0.04192
NM_001136193.2(FASTKD2):c.*4009G>A rs75079512 0.03496
NM_001136193.2(FASTKD2):c.*3080C>A rs77797215 0.03493
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_001303.4(COX10):c.1038G>A (p.Ser346=) rs2230355 0.02804
NM_005138.3(SCO2):c.327C>T (p.His109=) rs75485962 0.02713
NM_001136193.2(FASTKD2):c.*1415T>G rs6755938 0.02498
NM_001303.4(COX10):c.-63C>T rs77877576 0.02405
NM_001303.4(COX10):c.83C>T (p.Thr28Ile) rs16948978 0.01976
NM_001303.4(COX10):c.*438G>C rs75823746 0.01767
NM_001303.4(COX10):c.*974C>A rs2071245 0.01762
NM_001303.4(COX10):c.290A>G (p.Tyr97Cys) rs16948986 0.01758
NM_001303.4(COX10):c.*1101C>T rs75165393 0.01548
NM_016360.4(TACO1):c.*343C>T rs116289277 0.01456
NM_004589.4(SCO1):c.297A>G (p.Ala99=) rs11538237 0.01326
NM_001136193.2(FASTKD2):c.1254+9A>C rs10177169 0.01315
NM_001136193.2(FASTKD2):c.1187A>G (p.Asn396Ser) rs79652942 0.01063
NM_001136193.2(FASTKD2):c.-162C>T rs16838842 0.00997
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) rs8139305 0.00949
NM_001136193.2(FASTKD2):c.*4266G>A rs80251300 0.00937
NM_001136193.2(FASTKD2):c.1090G>A (p.Asp364Asn) rs34709212 0.00843
NM_001136193.2(FASTKD2):c.*3593G>A rs150571344 0.00796
NM_001303.4(COX10):c.*1324C>T rs75636595 0.00341
NM_001136193.2(FASTKD2):c.*159C>A rs549535843 0.00005
NM_001136193.2(FASTKD2):c.*3677G>T rs115714249
NM_001303.4(COX10):c.675G>T (p.Pro225=) rs199609301
NM_001303.4(COX10):c.929-9_929-7dup rs144296730
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_005138.3(SCO2):c.-135_-132dup rs143413019

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