ClinVar Miner

List of variants in gene BEST1 studied for autosomal recessive bestrophinopathy

Included ClinVar conditions (2):
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Gene type:
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Total variants: 15
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HGVS dbSNP
NM_004183.4(BEST1):c.122T>C (p.Leu41Pro) rs121918288
NM_004183.4(BEST1):c.1370C>G (p.Pro457Arg) rs1554964287
NM_004183.4(BEST1):c.1512_1513TG[1] (p.Val505fs) rs752521456
NM_004183.4(BEST1):c.275G>T (p.Arg92Leu) rs281865225
NM_004183.4(BEST1):c.400C>G (p.Leu134Val) rs753614067
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.598C>T (p.Arg200Ter) rs121918286
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
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_004183.4(BEST1):c.949G>A (p.Val317Met) rs121918287
NM_004183.4(BEST1):c.956T>C (p.Leu319Pro) rs1554963305

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