ClinVar Miner

List of variants reported as benign for Bietti crystalline corneoretinal dystrophy

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_207352.4(CYP4V2):c.*1781A>C rs6842047 0.89083
NM_207352.4(CYP4V2):c.*725C>T rs10033577 0.89018
NM_207352.3(CYP4V2):c.-296A>C rs7662717 0.86820
NM_207352.4(CYP4V2):c.*741C>T rs10033581 0.81342
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.64C>G (p.Leu22Val) rs1055138 0.45965
NM_207352.4(CYP4V2):c.*1236A>T rs1053094 0.45426
NM_207352.4(CYP4V2):c.-146C>T rs1398007 0.41515
NM_207352.4(CYP4V2):c.-152A>G rs2241819 0.39987
NM_207352.4(CYP4V2):c.802-7C>T rs3817184 0.35584
NM_207352.4(CYP4V2):c.*2399C>T rs56413992 0.15680
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.*1148A>G rs10011736 0.07494
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
NM_207352.4(CYP4V2):c.-128A>G rs531909464 0.01113
NM_207352.4(CYP4V2):c.*2106G>T rs72646302 0.01061
NM_207352.4(CYP4V2):c.24C>T (p.Leu8=) rs202148693 0.00077
NM_207352.4(CYP4V2):c.*2303G>C rs576134216 0.00006
NM_207352.4(CYP4V2):c.*2166C>G rs192436436 0.00001
NM_207352.4(CYP4V2):c.*1027C>T rs541778964
NM_207352.4(CYP4V2):c.*364T>G rs7697077

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