List of variants studied for vitelliform macular dystrophy by Fulgent Genetics, Fulgent Genetics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_004183.4(BEST1):c.219C>A (p.Ile73=)	rs1109748	0.10271
NM_004183.4(BEST1):c.618G>A (p.Leu206=)	rs62641693	0.01704
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile)	rs74653691	0.01704
NM_016247.4(IMPG2):c.828+17_828+18insC	rs199824990	0.01356
NM_004183.4(BEST1):c.584C>T (p.Ala195Val)	rs200277476	0.00016
NM_016247.4(IMPG2):c.745C>T (p.Leu249Phe)	rs376443291	0.00015
NM_004183.4(BEST1):c.598C>T (p.Arg200Ter)	rs121918286	0.00004
NM_004183.4(BEST1):c.1532A>G (p.Lys511Arg)	rs1199787091	0.00001
NM_000322.5(PRPH2):c.483C>T (p.Ile161=)	rs76989855
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)	rs281865238
NM_004183.4(BEST1):c.763C>T (p.Arg255Trp)	rs372989281
NM_016247.4(IMPG2):c.2887A>G (p.Ser963Gly)	rs941586075

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