ClinVar Miner

List of variants reported as likely pathogenic for coenzyme Q10 deficiency by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_182476.3(COQ6):c.349C>T (p.Arg117Ter) rs376848848 0.00004
NM_001358921.2(COQ2):c.440G>A (p.Arg147His) rs121918231 0.00003
NM_014317.5(PDSS1):c.337G>T (p.Glu113Ter) rs766969099 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) rs118203956 0.00002
NM_016035.5(COQ4):c.1A>G (p.Met1Val) rs751764908 0.00001
NM_016035.5(COQ4):c.469C>A (p.Gln157Lys) rs1045118320 0.00001
NM_182476.3(COQ6):c.1078C>T (p.Arg360Trp) rs778856227 0.00001
NM_001358921.2(COQ2):c.-16del
NM_001358921.2(COQ2):c.138dup (p.Ala47fs) rs759310292
NM_001358921.2(COQ2):c.211del (p.Leu71fs)
NM_001358921.2(COQ2):c.395T>G (p.Met132Arg) rs1057519348
NM_001358921.2(COQ2):c.439C>T (p.Arg147Cys)
NM_001358921.2(COQ2):c.542+1G>A
NM_001358921.2(COQ2):c.543-4_543del
NM_001358921.2(COQ2):c.71G>A (p.Trp24Ter) rs2126177139
NM_001358921.2(COQ2):c.909C>A (p.Tyr303Ter)
NM_001358921.2(COQ2):c.967del (p.Ile323fs) rs1734860676
NM_014317.5(PDSS1):c.436C>T (p.Arg146Ter) rs2132231934
NM_014317.5(PDSS1):c.52dup (p.Ala18fs)
NM_016035.5(COQ4):c.613C>T (p.Arg205Ter)
NM_016035.5(COQ4):c.627-1G>A
NM_020381.4(PDSS2):c.1045C>T (p.Arg349Ter) rs370370070
NM_020381.4(PDSS2):c.129dup (p.Lys44fs) rs1782160930
NM_020381.4(PDSS2):c.183dup (p.Tyr62fs)
NM_020381.4(PDSS2):c.401_402del (p.Asn134fs)
NM_182476.3(COQ6):c.22_44dup (p.Pro16fs)
NM_182476.3(COQ6):c.352del (p.Met118fs)
NM_182476.3(COQ6):c.613-8_614del
NM_182476.3(COQ6):c.988C>T (p.Gln330Ter)

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