"OMIM"[submitter] AND "COQ8B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 91847	NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter)	COQ8B (E483* +1 more)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 9	GPathogenic/Likely pathogenic
Select item 91851	NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs)	COQ8B (Q452fs +1 more)	Deletion (frameshift variant)	Nephrotic syndrome, type 9	GPathogenic/Likely pathogenic
Select item 91850	NM_024876.4(COQ8B):c.1199dup (p.His400fs)	COQ8B (H359fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 91849	NM_024876.4(COQ8B):c.1027C>T (p.Arg343Trp)	COQ8B (R343W +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	GPathogenic
Select item 91848	NM_024876.4(COQ8B):c.958C>T (p.Arg320Trp)	COQ8B (R320W +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	GPathogenic
Select item 91846	NM_024876.4(COQ8B):c.857A>G (p.Asp286Gly)	COQ8B (D286G +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9	GPathogenic
Select item 91845	NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)	COQ8B (R178W +1 more)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 9 +2 more	GPathogenic/Likely pathogenic

ClinVar