ClinVar Miner

List of variants studied for autosomal recessive bestrophinopathy by Institute of Medical Molecular Genetics, University of Zurich

Included ClinVar conditions (2):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284 0.00033
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_004183.4(BEST1):c.388C>A (p.Arg130Ser) rs750102662 0.00003
NM_004183.4(BEST1):c.638A>G (p.Glu213Gly) rs748685592 0.00001
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) rs61755781
NM_004183.4(BEST1):c.-37+1G>T rs1555096248
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) rs775283269

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