ClinVar Miner

List of variants studied for autosomal recessive bestrophinopathy by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_004183.4(BEST1):c.122T>C (p.Leu41Pro) rs121918288
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284
NM_004183.4(BEST1):c.598C>T (p.Arg200Ter) rs121918286
NM_004183.4(BEST1):c.949G>A (p.Val317Met) rs121918287

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