ClinVar Miner

List of variants reported as likely pathogenic for Bestrophinopathy, autosomal recessive

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Total variants: 13
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NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_004183.4(BEST1):c.-37+1G>T rs1555096248
NM_004183.4(BEST1):c.1514_1515del (p.Val505fs) rs752521456
NM_004183.4(BEST1):c.275G>T (p.Arg92Leu) rs281865225
NM_004183.4(BEST1):c.388C>A (p.Arg130Ser)
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046
NM_004183.4(BEST1):c.638A>G (p.Glu213Gly)
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) rs775283269
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu) rs1431752515
NM_004183.4(BEST1):c.695T>G (p.Ile232Ser) rs1565392261
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615

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