ClinVar Miner

List of variants in gene CYP4V2 reported as likely benign for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_207352.4(CYP4V2):c.638G>A (p.Ser213Asn) rs34331648 0.02714
NM_207352.4(CYP4V2):c.1091-4T>A rs61748269 0.01211
NM_207352.4(CYP4V2):c.*4T>C rs76978024 0.00479
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln) rs72646291 0.00306
NM_207352.4(CYP4V2):c.610G>A (p.Ala204Thr) rs61745524 0.00299
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=) rs141950964 0.00089
NM_207352.4(CYP4V2):c.264G>T (p.Pro88=) rs201610304 0.00003
NM_207352.4(CYP4V2):c.*210dup rs199938898
NM_207352.4(CYP4V2):c.1338C>G (p.Pro446=) rs35524919
NM_207352.4(CYP4V2):c.1338C>T (p.Pro446=) rs35524919

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