ClinVar Miner

List of variants reported as likely benign for Bietti crystalline corneoretinal dystrophy by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_207352.4(CYP4V2):c.*1474G>T
NM_207352.4(CYP4V2):c.*1638G>A rs72646300
NM_207352.4(CYP4V2):c.*1737A>G rs78965616
NM_207352.4(CYP4V2):c.*210dup rs199938898
NM_207352.4(CYP4V2):c.*4T>C rs76978024
NM_207352.4(CYP4V2):c.-130del rs200054565
NM_207352.4(CYP4V2):c.1091-4T>A rs61748269
NM_207352.4(CYP4V2):c.1328G>A (p.Arg443Gln) rs72646291
NM_207352.4(CYP4V2):c.1338C>G (p.Pro446=) rs35524919
NM_207352.4(CYP4V2):c.1446G>A (p.Ser482=) rs141950964
NM_207352.4(CYP4V2):c.638G>A (p.Ser213Asn) rs34331648

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