List of variants in gene BEST1 reported as pathogenic for age-related macular degeneration

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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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.1566_1576dup (p.His526delinsProTer)	rs1389863115

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