ClinVar Miner

List of variants in gene COX10 reported as uncertain significance for not provided

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) rs113058506 0.00212
NM_001303.4(COX10):c.1027T>C (p.Cys343Arg) rs200818252 0.00041
NM_001303.4(COX10):c.1066G>A (p.Val356Met) rs554973181 0.00017
NM_001303.4(COX10):c.624+4A>G rs199668725 0.00017
NM_001303.4(COX10):c.311C>T (p.Pro104Leu) rs202207627 0.00016
NM_001303.4(COX10):c.1064G>A (p.Arg355His) rs757204220 0.00014
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.1193G>A (p.Arg398His) rs200942884 0.00007
NM_001303.4(COX10):c.1192C>T (p.Arg398Cys) rs368724576 0.00006
NM_001303.4(COX10):c.260C>T (p.Thr87Ile) rs144000161 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.1169C>T (p.Ala390Val) rs749603596 0.00002
NM_001303.4(COX10):c.380T>C (p.Ile127Thr) rs201424119 0.00001
NM_001303.4(COX10):c.679G>A (p.Val227Ile) rs988356756 0.00001
NM_001303.4(COX10):c.982G>A (p.Ala328Thr) rs777911169 0.00001
GRCh37/hg19 17p12(chr17:13933395-14055324)x1
GRCh37/hg19 17p12(chr17:14041216-14108096)x1
NC_000017.10:g.(?_13972923)_(14110530_?)dup
NC_000017.10:g.(?_14005415)_(14005579_?)del
NC_000017.10:g.(?_14110107)_(14110530_?)del
NC_000017.10:g.(?_14110107)_(14110530_?)dup
NM_001303.4(COX10):c.-89G>C rs188803165
NM_001303.4(COX10):c.1015C>T (p.Arg339Trp)
NM_001303.4(COX10):c.1063C>T (p.Arg355Cys)
NM_001303.4(COX10):c.1096G>A (p.Val366Met) rs111541535
NM_001303.4(COX10):c.1108_1109delinsAT (p.Ala370Ile)
NM_001303.4(COX10):c.1139C>T (p.Thr380Ile) rs2142273429
NM_001303.4(COX10):c.1214G>T (p.Arg405Leu) rs1255927968
NM_001303.4(COX10):c.1260GCT[7] (p.Leu425_Met426insLeuLeu)
NM_001303.4(COX10):c.1286G>A (p.Cys429Tyr)
NM_001303.4(COX10):c.1300G>A (p.Gly434Arg)
NM_001303.4(COX10):c.1309G>T (p.Asp437Tyr)
NM_001303.4(COX10):c.1312G>A (p.Ala438Thr)
NM_001303.4(COX10):c.1315G>A (p.Gly439Arg)
NM_001303.4(COX10):c.1316G>A (p.Gly439Glu)
NM_001303.4(COX10):c.170A>G (p.Lys57Arg)
NM_001303.4(COX10):c.212A>T (p.Gln71Leu)
NM_001303.4(COX10):c.249C>G (p.Phe83Leu)
NM_001303.4(COX10):c.296T>G (p.Met99Arg)
NM_001303.4(COX10):c.338C>G (p.Pro113Arg) rs2142182463
NM_001303.4(COX10):c.44-2A>G
NM_001303.4(COX10):c.456T>G (p.Asp152Glu)
NM_001303.4(COX10):c.49G>A (p.Val17Ile)
NM_001303.4(COX10):c.503_504inv (p.Leu168Pro)
NM_001303.4(COX10):c.520G>A (p.Ala174Thr) rs2142200228
NM_001303.4(COX10):c.523G>T (p.Ala175Ser)
NM_001303.4(COX10):c.524C>G (p.Ala175Gly)
NM_001303.4(COX10):c.524C>T (p.Ala175Val)
NM_001303.4(COX10):c.563G>A (p.Cys188Tyr)
NM_001303.4(COX10):c.611A>G (p.Asn204Ser)
NM_001303.4(COX10):c.674C>G (p.Pro225Arg)
NM_001303.4(COX10):c.683G>A (p.Arg228His)
NM_001303.4(COX10):c.71T>C (p.Leu24Pro)
NM_001303.4(COX10):c.74A>G (p.Glu25Gly)
NM_001303.4(COX10):c.931G>A (p.Ala311Thr)
NM_001303.4(COX10):c.94T>G (p.Ser32Ala)
NM_001303.4(COX10):c.965A>C (p.Gln322Pro)
NM_001303.4(COX10):c.995G>T (p.Gly332Val) rs778473674

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