List of variants reported as likely pathogenic for exudative vitreoretinopathy 1

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_012193.4(FZD4):c.313A>G (p.Met105Val)	rs80358284	0.00004
NM_002335.4(LRP5):c.2555C>T (p.Thr852Met)	rs1398692057	0.00001
NM_002335.4(LRP5):c.2585A>T (p.Asp862Val)	rs2098660903
NM_012193.4(FZD4):c.1051G>C (p.Ala351Pro)
NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs)	rs80358295
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs)	rs80358303
NM_012193.4(FZD4):c.615del (p.Tyr206fs)	rs1949299271
NM_012193.4(FZD4):c.740G>A (p.Arg247Lys)
NM_012193.4(FZD4):c.964A>T (p.Ile322Phe)	rs1408259285

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