ClinVar Miner

List of variants in gene COX10 studied for Mitochondrial complex 4 deficiency, nuclear type 3

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001303.4(COX10):c.1027T>C (p.Cys343Arg) rs200818252 0.00041
NM_001303.4(COX10):c.535T>C (p.Leu179=) rs143593847 0.00038
NM_001303.4(COX10):c.*1459del rs574015313 0.00016
NM_001303.4(COX10):c.311C>T (p.Pro104Leu) rs202207627 0.00016
NM_001303.4(COX10):c.48C>T (p.Cys16=) rs748889500 0.00010
NM_001303.4(COX10):c.307T>G (p.Ser103Ala) rs200480915 0.00008
NM_001303.4(COX10):c.625T>C (p.Phe209Leu) rs767032314 0.00008
NM_001303.4(COX10):c.1007A>T (p.Asp336Val) rs104894557 0.00006
NM_001303.4(COX10):c.1192C>T (p.Arg398Cys) rs368724576 0.00006
NM_001303.4(COX10):c.1061G>A (p.Arg354Gln) rs745492359 0.00005
NM_001303.4(COX10):c.173G>A (p.Arg58His) rs772223730 0.00005
NM_001303.4(COX10):c.1070C>T (p.Ala357Val) rs148783821 0.00004
NM_001303.4(COX10):c.394G>T (p.Asp132Tyr) rs141549844 0.00004
NM_001303.4(COX10):c.1185C>T (p.Leu395=) rs772255579 0.00003
NM_001303.4(COX10):c.1169C>T (p.Ala390Val) rs749603596 0.00002
NM_001303.4(COX10):c.695+11G>A rs201826759 0.00002
NM_001303.4(COX10):c.1186G>A (p.Gly396Ser) rs142336139 0.00001
NM_001303.4(COX10):c.561C>T (p.Pro187=) rs371712806 0.00001
NM_001303.4(COX10):c.674C>T (p.Pro225Leu) rs104894556 0.00001
NM_001303.4(COX10):c.-89G>C rs188803165
NM_001303.4(COX10):c.-89G>T rs188803165
NM_001303.4(COX10):c.1007A>G (p.Asp336Gly) rs104894557
NM_001303.4(COX10):c.1037C>T (p.Ser346Leu)
NM_001303.4(COX10):c.1096G>A (p.Val366Met) rs111541535
NM_001303.4(COX10):c.1096G>T (p.Val366Leu) rs111541535
NM_001303.4(COX10):c.1262T>C (p.Leu421Pro)
NM_001303.4(COX10):c.172C>T (p.Arg58Cys)
NM_001303.4(COX10):c.413_414del (p.Lys138fs) rs2142182514
NM_001303.4(COX10):c.520G>A (p.Ala174Thr) rs2142200228
NM_001303.4(COX10):c.587C>A (p.Thr196Lys) rs104894555
NM_001303.4(COX10):c.612C>A (p.Asn204Lys) rs104894560
NM_001303.4(COX10):c.620del (p.Asn207fs)

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