Variants in gene BEST1 with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 8

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HGVS	dbSNP	gnomAD frequency
NM_004183.4(BEST1):c.418C>G (p.Leu140Val)	rs267606678	0.00003
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)	rs267606676	0.00001
NM_004183.4(BEST1):c.89A>G (p.Lys30Arg)	rs281865218	0.00001
NM_004183.4(BEST1):c.1403C>T (p.Pro468Leu)	rs747043918
NM_004183.4(BEST1):c.324C>G (p.Ser108Arg)	rs1565388478
NM_004183.4(BEST1):c.620T>A (p.Leu207His)	rs1591289408
NM_004183.4(BEST1):c.703G>T (p.Val235Leu)	rs281865245
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)	rs727503824

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