List of variants reported as likely pathogenic for Bietti crystalline corneoretinal dystrophy

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys)	rs138444697	0.00010
NM_207352.4(CYP4V2):c.1091-2A>G	rs199476183	0.00005
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His)	rs119103284	0.00003
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg)	rs199476187	0.00001
NM_207352.4(CYP4V2):c.1169G>T (p.Arg390Leu)	rs199476201
NM_207352.4(CYP4V2):c.1363del (p.Tyr455fs)
NM_207352.4(CYP4V2):c.176del (p.Leu59fs)	rs1735999769
NM_207352.4(CYP4V2):c.252C>A (p.Tyr84Ter)
NM_207352.4(CYP4V2):c.47G>A (p.Trp16Ter)
NM_207352.4(CYP4V2):c.501_504del (p.Glu168fs)	rs746484929
NM_207352.4(CYP4V2):c.732G>A (p.Trp244Ter)

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