ClinVar Miner

List of variants studied for Autosomal recessive bestrophinopathy; Vitelliform macular dystrophy 2; Autosomal dominant vitreoretinochoroidopathy; Retinitis pigmentosa 50 by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046 0.00007
NM_004183.4(BEST1):c.1415del (p.Leu472fs) rs752125512 0.00005
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278 0.00002
NM_004183.4(BEST1):c.508C>T (p.Gln170Ter) rs186544610 0.00001

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