List of variants studied for cone dystrophy with supernormal rod response by Sharon lab, Hadassah-Hebrew University Medical Center

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_133497.4(KCNV2):c.782C>A (p.Ala261Asp)	rs755071813	0.00001
NM_133497.4(KCNV2):c.958C>T (p.Arg320Cys)	rs754275640	0.00001
NM_133497.4(KCNV2):c.1441G>C (p.Gly481Arg)	rs1586692857
NM_133497.4(KCNV2):c.411_414del (p.Leu138fs)	rs1586686845
NM_133497.4(KCNV2):c.455A>G (p.Asp152Gly)	rs1586686896
NM_133497.4(KCNV2):c.725_730del (p.Gln242_Arg243del)	rs1586687216
NM_133497.4(KCNV2):c.758del (p.Pro253fs)	rs1586687247
NM_133497.4(KCNV2):c.995_996dup (p.Ser333fs)	rs986350598

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