List of variants in gene CEP152 reported as likely pathogenic for not provided

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)	rs182018947	0.00048
NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter)	rs201442213	0.00017
NM_001194998.2(CEP152):c.3249del (p.Val1084fs)	rs754267846	0.00010
NM_001194998.2(CEP152):c.1908+1G>T	rs748767202	0.00009
NM_001194998.2(CEP152):c.1578-1G>A	rs199773611	0.00008
NM_001194998.2(CEP152):c.1322-1G>C	rs746795974	0.00003
NM_001194998.2(CEP152):c.2695-1G>T	rs768349870	0.00003
NM_001194998.2(CEP152):c.3635-2A>G	rs1192991504	0.00002
NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro)	rs267606717	0.00002
NM_001194998.2(CEP152):c.972+2T>A	rs766194658	0.00002
NM_001194998.2(CEP152):c.2563-2A>G	rs1040173915	0.00001
NM_001194998.2(CEP152):c.692-1G>C	rs1363366811	0.00001
NM_001194998.2(CEP152):c.88-2A>G	rs537376932	0.00001
NM_001194998.2(CEP152):c.1173+1G>T	rs1291400582
NM_001194998.2(CEP152):c.1321+1G>A	rs768224127
NM_001194998.2(CEP152):c.1414-2A>G
NM_001194998.2(CEP152):c.1783-2A>G	rs2504721792
NM_001194998.2(CEP152):c.2018+2del	rs2504713247
NM_001194998.2(CEP152):c.2147+1G>A	rs2055237596
NM_001194998.2(CEP152):c.2258del (p.Lys753fs)	rs770971891
NM_001194998.2(CEP152):c.2280+1G>A	rs2504699867
NM_001194998.2(CEP152):c.2281-1G>C	rs1296360030
NM_001194998.2(CEP152):c.2281-2A>C	rs2504664282
NM_001194998.2(CEP152):c.2281-2A>G
NM_001194998.2(CEP152):c.2694+1G>T	rs1349385657
NM_001194998.2(CEP152):c.3345+2T>G	rs2504598589
NM_001194998.2(CEP152):c.3346-2A>C	rs2504572059
NM_001194998.2(CEP152):c.4295del (p.Lys1432fs)	rs1566971734
NM_001194998.2(CEP152):c.540+1G>A	rs1263911484
NM_001194998.2(CEP152):c.541-1G>C	rs2504917048
NM_001194998.2(CEP152):c.833-1G>C	rs372745389
NM_001194998.2(CEP152):c.95A>C (p.Gln32Pro)	rs2504936679
NM_001194998.2(CEP152):c.973-1G>T	rs2504864133

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