ClinVar Miner

List of variants in gene combination CEP104, LOC126805586 reported as benign by GeneDx

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_014704.4(CEP104):c.2043+101A>G rs2275830 0.91302
NM_014704.4(CEP104):c.1837-28G>C rs2275826 0.90435
NM_014704.4(CEP104):c.2044-179T>C rs1836 0.90433
NM_014704.4(CEP104):c.1837-22C>A rs2275828 0.36898
NM_014704.4(CEP104):c.1837-24A>C rs2275827 0.22584
NM_014704.4(CEP104):c.1837-149G>A rs17403773 0.13109
NM_014704.4(CEP104):c.2057C>T (p.Ala686Val) rs2275831 0.09574
NM_014704.4(CEP104):c.1884G>T (p.Thr628=) rs12144567 0.00398
NM_014704.4(CEP104):c.1914A>G (p.Arg638=) rs2275829 0.00386

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