ClinVar Miner

List of variants in gene CYP4V2 reported as benign for Bietti crystalline corneoretinal dystrophy

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_207352.4(CYP4V2):c.810T>G (p.Ala270=) rs3736455 0.61879
NM_207352.4(CYP4V2):c.775C>A (p.Gln259Lys) rs13146272 0.60911
NM_207352.4(CYP4V2):c.802-7C>T rs3817184 0.35584
NM_207352.4(CYP4V2):c.846T>C (p.Cys282=) rs3736456 0.08521
NM_207352.4(CYP4V2):c.1083C>T (p.Asp361=) rs10029149 0.07706
NM_207352.4(CYP4V2):c.327+11G>C rs62350517 0.05079
NM_207352.4(CYP4V2):c.555A>T (p.Ala185=) rs11932764 0.04398
NM_207352.4(CYP4V2):c.823G>A (p.Glu275Lys) rs34745240 0.03745
NM_207352.4(CYP4V2):c.1536C>T (p.Gly512=) rs72646298 0.01138

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