ClinVar Miner

List of variants in gene COX10 reported as uncertain significance for Leigh syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001303.4(COX10):c.*305A>G rs143758001 0.00462
NM_001303.4(COX10):c.*1148G>A rs151138383 0.00272
NM_001303.4(COX10):c.929-7C>T rs62052075 0.00220
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) rs113058506 0.00212
NM_001303.4(COX10):c.981C>T (p.Asn327=) rs146175179 0.00098
NM_001303.4(COX10):c.1027T>C (p.Cys343Arg) rs200818252 0.00041
NM_001303.4(COX10):c.*859G>T rs974629254 0.00038
NM_001303.4(COX10):c.-29C>A rs373184679 0.00032
NM_001303.4(COX10):c.192G>A (p.Leu64=) rs569444237 0.00021
NM_001303.4(COX10):c.624+4A>G rs199668725 0.00017
NM_001303.4(COX10):c.*1459del rs574015313 0.00016
NM_001303.4(COX10):c.*823C>T rs886052609 0.00016
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.*591_*592del rs886052606 0.00013
NM_001303.4(COX10):c.*894G>T rs573080780 0.00013
NM_001303.4(COX10):c.*13G>A rs371047487 0.00006
NM_001303.4(COX10):c.-24G>A rs201257809 0.00006
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.*535C>A rs886052604 0.00004
NM_001303.4(COX10):c.394G>T (p.Asp132Tyr) rs141549844 0.00004
NM_001303.4(COX10):c.543G>A (p.Pro181=) rs371273328 0.00004
NM_001303.4(COX10):c.*152T>A rs886052602 0.00003
NM_001303.4(COX10):c.*628C>T rs886052607 0.00003
NM_001303.4(COX10):c.*739A>G rs886052608 0.00003
NM_001303.4(COX10):c.44-3T>C rs759643676 0.00003
NM_001303.4(COX10):c.1169C>T (p.Ala390Val) rs749603596 0.00002
NM_001303.4(COX10):c.*1002C>T rs1326135885 0.00001
NM_001303.4(COX10):c.*144T>C rs1906742963 0.00001
NM_001303.4(COX10):c.*485G>A rs931361027 0.00001
NM_001303.4(COX10):c.*564dup rs886052605 0.00001
NM_001303.4(COX10):c.*653G>A rs537449689 0.00001
NM_001303.4(COX10):c.1186G>A (p.Gly396Ser) rs142336139 0.00001
NM_001303.4(COX10):c.*1032T>A rs1906768949
NM_001303.4(COX10):c.*1367G>A rs555512140
NM_001303.4(COX10):c.*150_*152del rs200239586
NM_001303.4(COX10):c.*408G>A rs886052603
NM_001303.4(COX10):c.*539C>A rs1906754704
NM_001303.4(COX10):c.*628C>G rs886052607
NM_001303.4(COX10):c.*720G>A rs1174121283
NM_001303.4(COX10):c.-40G>A rs376921957
NM_001303.4(COX10):c.-89G>C rs188803165
NM_001303.4(COX10):c.-89G>T rs188803165
NM_001303.4(COX10):c.-90G>T rs886052598
NM_001303.4(COX10):c.123G>A (p.Arg41=) rs886052599
NM_001303.4(COX10):c.1305C>T (p.Gly435=) rs199737206
NM_001303.4(COX10):c.64T>A (p.Trp22Arg) rs540737897

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