List of variants reported as likely pathogenic for adult-onset foveomacular vitelliform dystrophy

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)	rs61755767	0.00026
NM_016247.4(IMPG2):c.3262C>T (p.Arg1088Ter)	rs199867882	0.00001
NM_000322.5(PRPH2):c.246_249del (p.Cys82fs)	rs1761915143
NM_000322.5(PRPH2):c.530T>G (p.Ile177Ser)
NM_000322.5(PRPH2):c.636C>G (p.Ser212Arg)	rs1554269071
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp)	rs61755809
NM_000322.5(PRPH2):c.668T>C (p.Ile223Thr)	rs1800114220
NM_000322.5(PRPH2):c.736T>C (p.Trp246Arg)	rs61755817
NM_000322.5(PRPH2):c.829-1G>A	rs1582759782
NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter)	rs61748430
NM_000322.5(PRPH2):c.934del (p.Val312fs)	rs1799986608
NM_001563.4(IMPG1):c.1530del (p.Gly511fs)
NM_016247.4(IMPG2):c.2816T>A (p.Leu939His)	rs1559642470
NM_016247.4(IMPG2):c.3047T>C (p.Phe1016Ser)
NM_016247.4(IMPG2):c.380G>C (p.Arg127Pro)	rs766305807
NM_016247.4(IMPG2):c.478G>T (p.Glu160Ter)

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