List of variants in gene CEP55 reported as pathogenic for autosomal recessive disease

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter)	rs141458677	0.00019
NM_018131.5(CEP55):c.993+3A>C	rs572584581	0.00004
NM_018131.5(CEP55):c.1274C>A (p.Ser425Ter)	rs201430235	0.00001
NM_018131.5(CEP55):c.514dup (p.Ile172fs)	rs1169095680
NM_018131.5(CEP55):c.807T>G (p.Tyr269Ter)	rs1297300713

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