List of variants in gene CEP250 reported as likely pathogenic by Invitae

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_007186.6(CEP250):c.493-1G>A	rs200083040	0.00059
NM_007186.6(CEP250):c.2094+1G>A	rs762000140	0.00003
NM_007186.6(CEP250):c.1209+1G>A
NM_007186.6(CEP250):c.2288+2T>C
NM_007186.6(CEP250):c.2890-2A>G	rs2063751607
NM_007186.6(CEP250):c.3167+2T>C	rs910609696
NM_007186.6(CEP250):c.3898+2T>C
NM_007186.6(CEP250):c.493-2A>G	rs1276900541
NM_007186.6(CEP250):c.599+2T>C
NM_007186.6(CEP250):c.6907-2A>G

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