ClinVar Miner

List of variants in gene BEST1 studied for Isolated macular dystrophy

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004183.4(BEST1):c.247+2del	rs1565387045
NM_004183.4(BEST1):c.37C>G (p.Arg13Gly)	rs886041141

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