List of variants reported as likely pathogenic for Familial exudative vitreoretinopathy

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_002335.4(LRP5):c.1265C>T (p.Ala422Val)	rs761919591	0.00001
NM_012193.4(FZD4):c.349T>C (p.Cys117Arg)	rs759432455	0.00001
NM_002335.4(LRP5):c.3242T>G (p.Leu1081Arg)	rs1308485193
NM_002335.4(LRP5):c.3763+2T>C
NM_012338.4(TSPAN12):c.225_227del (p.Ile76del)	rs1171910750
NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe)	rs878853243
NM_024741.3(ZNF408):c.1174T>C (p.Ser392Pro)	rs966073464

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