List of variants in gene CEP104 studied for Intellectual developmental disorder, autosomal recessive 77

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014704.4(CEP104):c.342A>C (p.Lys114Asn)	rs779086283	0.00004
NM_014704.4(CEP104):c.1015C>A (p.Pro339Thr)
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
NM_014704.4(CEP104):c.963G>A (p.Met321Ile)	rs2525455778

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