ClinVar Miner

List of variants in gene COX10 reported as benign for Leigh syndrome

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001303.3(COX10):c.-112G>A rs6502330 0.99477
NM_001303.4(COX10):c.504G>A (p.Leu168=) rs2159132 0.53492
NM_001303.4(COX10):c.476G>A (p.Arg159Gln) rs2072279 0.48875
NM_001303.4(COX10):c.*1385C>T rs1050223 0.26244
NM_001303.4(COX10):c.*1078C>T rs13183 0.23332
NM_001303.4(COX10):c.*297G>A rs8076247 0.23328
NM_001303.4(COX10):c.*371A>G rs11078234 0.18397
NM_001303.4(COX10):c.*1076T>C rs1050216 0.17502
NM_001303.4(COX10):c.*757T>C rs1802618 0.15929
NM_001303.4(COX10):c.*322T>C rs11078233 0.15800
NM_001303.4(COX10):c.184A>T (p.Thr62Ser) rs2230351 0.06303
NM_001303.4(COX10):c.1038G>A (p.Ser346=) rs2230355 0.02804
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_001303.4(COX10):c.*1079G>A rs116445114 0.01056
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946 0.00727
NM_001303.4(COX10):c.*1324C>T rs75636595 0.00341
NM_001303.4(COX10):c.*151_*152del rs200239586
NM_001303.4(COX10):c.*646C>A rs7214082
NM_001303.4(COX10):c.*831CT[1] rs397763766

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