List of variants in gene CEP83 reported as pathogenic for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)	rs369483167	0.00009
NM_016122.3(CEP83):c.907C>T (p.Arg303Ter)	rs757301110	0.00006
NM_016122.3(CEP83):c.121C>T (p.Arg41Ter)	rs587777486	0.00001
NM_016122.3(CEP83):c.1451C>A (p.Ser484Ter)	rs777412559	0.00001
NM_016122.3(CEP83):c.1531C>T (p.Arg511Ter)	rs1162641847	0.00001
NM_016122.3(CEP83):c.1867C>T (p.Gln623Ter)	rs1198459012	0.00001
NM_016122.3(CEP83):c.1888C>T (p.Arg630Ter)	rs1207804224	0.00001
NM_016122.3(CEP83):c.241C>T (p.Gln81Ter)	rs368619022	0.00001
NM_016122.3(CEP83):c.643C>T (p.Arg215Ter)	rs750092874	0.00001
NC_000012.11:g.(?_94794606)_(94806266_?)del
NM_016122.3(CEP83):c.1060_1063del (p.Asp354fs)	rs1276979881
NM_016122.3(CEP83):c.1067_1068insTA (p.Glu356fs)	rs1064794347
NM_016122.3(CEP83):c.1131dup (p.Arg378fs)	rs2061113374
NM_016122.3(CEP83):c.1165C>T (p.Gln389Ter)	rs2061111812
NM_016122.3(CEP83):c.1170del (p.Lys390fs)
NM_016122.3(CEP83):c.1183C>T (p.Gln395Ter)
NM_016122.3(CEP83):c.1234_1237del (p.Lys412fs)	rs780500128
NM_016122.3(CEP83):c.1311_1315del (p.Glu437fs)	rs1187876547
NM_016122.3(CEP83):c.1327G>T (p.Glu443Ter)
NM_016122.3(CEP83):c.1462_1465del (p.Ser488fs)	rs2136515432
NM_016122.3(CEP83):c.1530C>A (p.Cys510Ter)	rs587777488
NM_016122.3(CEP83):c.1532G>C (p.Arg511Pro)	rs587777487
NM_016122.3(CEP83):c.1542_1558del (p.Arg514fs)	rs2136514301
NM_016122.3(CEP83):c.1580del (p.Thr527fs)
NM_016122.3(CEP83):c.1621A>T (p.Lys541Ter)	rs2136488957
NM_016122.3(CEP83):c.1684C>T (p.Arg562Ter)	rs906852829
NM_016122.3(CEP83):c.1729A>T (p.Lys577Ter)
NM_016122.3(CEP83):c.1948C>T (p.Gln650Ter)
NM_016122.3(CEP83):c.2007del (p.Glu669fs)	rs922686745
NM_016122.3(CEP83):c.2072AAC[1] (p.Gln692del)	rs879255576
NM_016122.3(CEP83):c.335_352del (p.Pro112_Leu117del)	rs879255575
NM_016122.3(CEP83):c.499G>T (p.Glu167Ter)	rs2137575733
NM_016122.3(CEP83):c.606del (p.Leu203fs)	rs2137174483
NM_016122.3(CEP83):c.940G>T (p.Glu314Ter)

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