ClinVar Miner

List of variants studied for spastic ataxia 10, autosomal recessive

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_016035.5(COQ4):c.376G>A (p.Glu126Lys) rs149398860 0.00030
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_016035.5(COQ4):c.202+4A>C rs777821562 0.00003
NM_016035.5(COQ4):c.304C>T (p.Arg102Cys) rs371984550 0.00003
NM_016035.5(COQ4):c.370G>A (p.Gly124Ser) rs776825296 0.00003
NM_016035.5(COQ4):c.473G>A (p.Arg158Gln) rs779805523 0.00003
NM_016035.5(COQ4):c.533G>A (p.Gly178Glu) rs754865584 0.00002
NM_016035.5(COQ4):c.1A>G (p.Met1Val) rs751764908 0.00001
NM_016035.5(COQ4):c.305G>A (p.Arg102His) rs929713295 0.00001
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys) rs1045118320 0.00001
NM_016035.5(COQ4):c.23_33del (p.Val8fs) rs886041549
NM_016035.5(COQ4):c.402+1G>C rs747779231
NM_016035.5(COQ4):c.433C>T (p.Arg145Cys)
NM_016035.5(COQ4):c.434G>A (p.Arg145His)
NM_016035.5(COQ4):c.613C>T (p.Arg205Ter)
NM_016035.5(COQ4):c.627-1G>A
NM_016035.5(COQ4):c.719G>A (p.Arg240His)
NM_016035.5(COQ4):c.745C>T (p.Arg249Trp)
NM_016035.5(COQ4):c.87dup (p.Arg30Ter)

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