List of variants in gene BEST1 reported as pathogenic by OMIM

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: 25

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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.598C>T (p.Arg200Ter)	rs121918286	0.00004
NM_004183.4(BEST1):c.355G>C (p.Glu119Gln)	rs1805142	0.00003
NM_004183.4(BEST1):c.418C>G (p.Leu140Val)	rs267606678	0.00003
NM_004183.4(BEST1):c.140G>A (p.Arg47His)	rs28940278	0.00002
NM_004183.4(BEST1):c.122T>C (p.Leu41Pro)	rs121918288	0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn)	rs267606676	0.00001
NM_004183.4(BEST1):c.87C>G (p.Tyr29Ter)	rs121918285	0.00001
NM_004183.4(BEST1):c.1470_1471del (p.His490fs)	rs281865528
NM_004183.4(BEST1):c.16A>C (p.Thr6Pro)	rs28940275
NM_004183.4(BEST1):c.253T>C (p.Tyr85His)	rs28940274
NM_004183.4(BEST1):c.256G>A (p.Val86Met)	rs121918289
NM_004183.4(BEST1):c.25G>A (p.Val9Met)	rs28940276
NM_004183.4(BEST1):c.279G>C (p.Trp93Cys)	rs28940273
NM_004183.4(BEST1):c.436_437delinsAA (p.Ala146Lys)	rs1800995
NM_004183.4(BEST1):c.614T>C (p.Ile205Thr)	rs267606680
NM_004183.4(BEST1):c.679T>A (p.Tyr227Asn)	rs28941469
NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys)	rs267606677
NM_004183.4(BEST1):c.704T>C (p.Val235Ala)	rs267606679
NM_004183.4(BEST1):c.707A>G (p.Tyr236Cys)	rs121918291
NM_004183.4(BEST1):c.715G>A (p.Val239Met)	rs121918290
NM_004183.4(BEST1):c.728C>T (p.Ala243Val)	rs28940570
NM_004183.4(BEST1):c.881TCA[1] (p.Ile295del)	rs121918283
NM_004183.4(BEST1):c.896G>A (p.Gly299Glu)	rs28941468
NM_004183.4(BEST1):c.949G>A (p.Val317Met)	rs121918287

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