List of variants in gene BEST1 reported as uncertain significance by Blueprint Genetics

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_004183.4(BEST1):c.1174C>T (p.Arg392Cys)	rs762903676	0.00002
NM_004183.4(BEST1):c.97T>C (p.Tyr33His)	rs994248373	0.00001
NM_004183.4(BEST1):c.1062C>G (p.Phe354Leu)	rs1265837064
NM_004183.4(BEST1):c.35C>G (p.Ala12Gly)	rs1940692591
NM_004183.4(BEST1):c.530C>T (p.Pro177Leu)	rs1360056203
NM_004183.4(BEST1):c.539T>C (p.Met180Thr)	rs1941427913
NM_004183.4(BEST1):c.559T>G (p.Trp187Gly)	rs1941429437
NM_004183.4(BEST1):c.77G>A (p.Gly26Asp)	rs748684128
NM_004183.4(BEST1):c.815T>C (p.Val272Ala)	rs536333519
NM_004183.4(BEST1):c.97T>G (p.Tyr33Asp)	rs994248373

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