ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 26
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HGVS dbSNP
NM_207352.3(CYP4V2):c.-296A>C rs7662717
NM_207352.4(CYP4V2):c.*1027C>T rs541778964
NM_207352.4(CYP4V2):c.*1148A>G rs10011736
NM_207352.4(CYP4V2):c.*1236A>T rs1053094
NM_207352.4(CYP4V2):c.*1781A>C rs6842047
NM_207352.4(CYP4V2):c.*2106G>T rs72646302
NM_207352.4(CYP4V2):c.*2166C>G
NM_207352.4(CYP4V2):c.*2303G>C rs576134216
NM_207352.4(CYP4V2):c.*2399C>T rs56413992
NM_207352.4(CYP4V2):c.*364T>G rs7697077
NM_207352.4(CYP4V2):c.*725C>T rs10033577
NM_207352.4(CYP4V2):c.*741C>T rs10033581
NM_207352.4(CYP4V2):c.-128A>G rs531909464
NM_207352.4(CYP4V2):c.-146C>T rs1398007
NM_207352.4(CYP4V2):c.-152A>G rs2241819
NM_207352.4(CYP4V2):c.1083C>T (p.Asp361=) rs10029149
NM_207352.4(CYP4V2):c.1536C>T (p.Gly512=) rs72646298
NM_207352.4(CYP4V2):c.24C>T (p.Leu8=) rs202148693
NM_207352.4(CYP4V2):c.327+11G>C rs62350517
NM_207352.4(CYP4V2):c.555A>T (p.Ala185=) rs11932764
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138
NM_207352.4(CYP4V2):c.775C>A (p.Gln259Lys) rs13146272
NM_207352.4(CYP4V2):c.802-7C>T rs3817184
NM_207352.4(CYP4V2):c.810T>G (p.Ala270=) rs3736455
NM_207352.4(CYP4V2):c.823G>A (p.Glu275Lys) rs34745240
NM_207352.4(CYP4V2):c.846T>C (p.Cys282=) rs3736456

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