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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
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.802-7C>T	rs3817184	0.35584
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.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

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