List of variants in gene combination CEP290, LOC129390514 reported as likely pathogenic for Meckel syndrome

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_025114.4(CEP290):c.6271-6_6274del	rs2034579427
NM_025114.4(CEP290):c.6357+1G>A	rs1196938557

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