ClinVar Miner

List of variants in gene COX10 reported as uncertain significance for Mitochondrial complex 4 deficiency, nuclear type 3

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001303.4(COX10):c.1027T>C (p.Cys343Arg) rs200818252 0.00037
NM_001303.4(COX10):c.1066G>A (p.Val356Met) rs554973181 0.00017
NM_001303.4(COX10):c.311C>T (p.Pro104Leu) rs202207627 0.00017
NM_001303.4(COX10):c.*1459del rs574015313 0.00016
NM_001303.4(COX10):c.625T>C (p.Phe209Leu) rs767032314 0.00008
NM_001303.4(COX10):c.1193G>A (p.Arg398His) rs200942884 0.00007
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.1070C>T (p.Ala357Val) rs148783821 0.00005
NM_001303.4(COX10):c.173G>A (p.Arg58His) rs772223730 0.00005
NM_001303.4(COX10):c.394G>T (p.Asp132Tyr) rs141549844 0.00004
NM_001303.4(COX10):c.172C>T (p.Arg58Cys) rs746158624 0.00003
NM_001303.4(COX10):c.1169C>T (p.Ala390Val) rs749603596 0.00002
NM_001303.4(COX10):c.599C>A (p.Ser200Tyr) rs752287000 0.00002
NM_001303.4(COX10):c.1186G>A (p.Gly396Ser) rs142336139 0.00001
NM_001303.4(COX10):c.1262T>C (p.Leu421Pro) rs149968861 0.00001
NM_001303.4(COX10):c.212A>T (p.Gln71Leu) rs920753708 0.00001
NM_001303.4(COX10):c.307T>G (p.Ser103Ala) rs200480915 0.00001
NM_001303.4(COX10):c.563G>A (p.Cys188Tyr) rs200827701 0.00001
NM_001303.4(COX10):c.-89G>C rs188803165
NM_001303.4(COX10):c.-89G>T rs188803165
NM_001303.4(COX10):c.1021G>A (p.Gly341Ser)
NM_001303.4(COX10):c.1037C>T (p.Ser346Leu) rs1906720241
NM_001303.4(COX10):c.1049C>T (p.Pro350Leu)
NM_001303.4(COX10):c.1095C>A (p.Leu365=)
NM_001303.4(COX10):c.1096G>A (p.Val366Met) rs111541535
NM_001303.4(COX10):c.1105G>A (p.Ala369Thr)
NM_001303.4(COX10):c.1143C>A (p.Phe381Leu)
NM_001303.4(COX10):c.1154C>G (p.Ala385Gly)
NM_001303.4(COX10):c.1159C>T (p.Pro387Ser)
NM_001303.4(COX10):c.1235TCT[1] (p.Phe413del)
NM_001303.4(COX10):c.1260GCT[6] (p.Leu425_Met426insLeu)
NM_001303.4(COX10):c.1292G>A (p.Arg431Gln)
NM_001303.4(COX10):c.1295C>T (p.Pro432Leu)
NM_001303.4(COX10):c.1306G>A (p.Gly436Arg)
NM_001303.4(COX10):c.1315G>A (p.Gly439Arg) rs1388986610
NM_001303.4(COX10):c.145A>G (p.Thr49Ala)
NM_001303.4(COX10):c.155A>C (p.His52Pro)
NM_001303.4(COX10):c.212A>G (p.Gln71Arg)
NM_001303.4(COX10):c.232C>G (p.Pro78Ala)
NM_001303.4(COX10):c.233C>G (p.Pro78Arg)
NM_001303.4(COX10):c.238G>A (p.Ala80Thr)
NM_001303.4(COX10):c.250C>T (p.Leu84Phe)
NM_001303.4(COX10):c.295A>G (p.Met99Val)
NM_001303.4(COX10):c.385G>T (p.Asp129Tyr)
NM_001303.4(COX10):c.424C>T (p.Arg142Trp)
NM_001303.4(COX10):c.491A>C (p.Lys164Thr)
NM_001303.4(COX10):c.49G>A (p.Val17Ile) rs746426795
NM_001303.4(COX10):c.520G>A (p.Ala174Thr) rs2142200228
NM_001303.4(COX10):c.524C>T (p.Ala175Val) rs141466324
NM_001303.4(COX10):c.542C>T (p.Pro181Leu) rs746378369
NM_001303.4(COX10):c.558G>T (p.Trp186Cys)
NM_001303.4(COX10):c.624+5G>C
NM_001303.4(COX10):c.638C>T (p.Pro213Leu)
NM_001303.4(COX10):c.657T>C (p.Asn219=)
NM_001303.4(COX10):c.931G>A (p.Ala311Thr)
NM_001303.4(COX10):c.958T>C (p.Ser320Pro)
NM_001303.4(COX10):c.95C>T (p.Ser32Phe)

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