List of variants in gene BEST1 reported as likely pathogenic for autosomal recessive bestrophinopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_004183.4(BEST1):c.422G>A (p.Arg141His)	rs121918284	0.00033
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)	rs199529046	0.00006
NM_004183.4(BEST1):c.388C>A (p.Arg130Ser)	rs750102662	0.00003
NM_004183.4(BEST1):c.70T>C (p.Trp24Arg)	rs1334381137	0.00002
NM_004183.4(BEST1):c.275G>T (p.Arg92Leu)	rs281865225	0.00001
NM_004183.4(BEST1):c.400C>G (p.Leu134Val)	rs753614067	0.00001
NM_004183.4(BEST1):c.638A>G (p.Glu213Gly)	rs748685592	0.00001
NM_004183.4(BEST1):c.-37+1G>T	rs1555096248
NM_004183.4(BEST1):c.1013G>A (p.Trp338Ter)
NM_004183.4(BEST1):c.103G>A (p.Glu35Lys)	rs886041142
NM_004183.4(BEST1):c.1514_1515del (p.Val505fs)	rs752521456
NM_004183.4(BEST1):c.1622del (p.Leu541fs)	rs1942209287
NM_004183.4(BEST1):c.365G>C (p.Arg122Pro)	rs767103810
NM_004183.4(BEST1):c.424_426dup (p.Ser142dup)	rs1591284563
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter)	rs775283269
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu)	rs1431752515
NM_004183.4(BEST1):c.695T>G (p.Ile232Ser)	rs1565392261

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