List of variants in gene CEP104 reported as pathogenic for Intellectual developmental disorder, autosomal recessive 77

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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: 3

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HGVS	dbSNP	gnomAD frequency
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs)	rs749829859
NM_014704.4(CEP104):c.2356_2357insTT (p.Cys786fs)	rs2124647615
NM_014704.4(CEP104):c.643C>T (p.Arg215Ter)	rs759675006

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