List of variants in gene BEST1 reported as likely pathogenic by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_004183.4(BEST1):c.275G>T (p.Arg92Leu)	rs281865225	0.00001
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu)	rs1431752515
NM_004183.4(BEST1):c.695T>G (p.Ile232Ser)	rs1565392261

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