ClinVar Miner

List of variants in gene combination CEP104, LOC126805586 studied for not provided

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Total variants: 20
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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.1837-258G>A rs77989248 0.02306
NM_014704.4(CEP104):c.1837-74T>C rs145970148 0.01257
NM_014704.4(CEP104):c.2043+120G>A rs79457954 0.00664
NM_014704.4(CEP104):c.1837-251A>G rs192774445 0.00653
NM_014704.4(CEP104):c.2044-164A>G rs149317299 0.00555
NM_014704.4(CEP104):c.1884G>T (p.Thr628=) rs12144567 0.00398
NM_014704.4(CEP104):c.1914A>G (p.Arg638=) rs2275829 0.00386
NM_014704.4(CEP104):c.1966C>T (p.Arg656Cys) rs148465057 0.00276
NM_014704.4(CEP104):c.1883C>T (p.Thr628Met) rs148397021 0.00026
NM_014704.4(CEP104):c.1851C>T (p.Ala617=) rs150585805 0.00022
NM_014704.4(CEP104):c.2081_2084del (p.Gln694fs) rs771531523 0.00001
NM_014704.4(CEP104):c.1891C>T (p.Arg631Ter) rs1644169357
NM_014704.4(CEP104):c.2054A>C (p.Lys685Thr) rs1233246156

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