ClinVar Miner

List of variants studied for Bietti crystalline corneoretinal dystrophy by OMIM

Included ClinVar conditions (1):
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Total variants: 9
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HGVS dbSNP
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183
NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg) rs119103282
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter) rs199476204
NM_207352.4(CYP4V2):c.1396A>G (p.Asn466Asp) rs797045181
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His) rs119103284
NM_207352.4(CYP4V2):c.181G>A (p.Gly61Ser) rs119103285
NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr) rs119103283
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro) rs199476197

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