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

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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.6277del (p.Val2093fs)	rs771454167	0.00002
NM_025114.4(CEP290):c.6271-8T>G	rs1039146791

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