List of variants in gene BEST1 reported as uncertain significance by Eurofins NTD LLC (GA)

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_004183.4(BEST1):c.637-6C>T	rs62639356	0.00147
NM_004183.4(BEST1):c.624G>A (p.Gln208=)	rs150247275	0.00114
NM_004183.4(BEST1):c.1752T>A (p.His584Gln)	rs534854547	0.00009
NM_004183.4(BEST1):c.1204C>T (p.His402Tyr)	rs149678971	0.00005
NM_004183.4(BEST1):c.418C>G (p.Leu140Val)	rs267606678	0.00003
NM_004183.4(BEST1):c.55C>T (p.Arg19Cys)	rs765385264	0.00003
NM_004183.4(BEST1):c.1740-3T>G	rs1554965067	0.00001
NM_004183.4(BEST1):c.1007T>G (p.Met336Arg)	rs727503825
NM_004183.4(BEST1):c.1104G>C (p.Leu368=)	rs886044150
NM_004183.4(BEST1):c.797G>A (p.Gly266Asp)	rs794727864
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)	rs727503824

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