List of variants in gene BEST1 reported as likely pathogenic for Retinal dystrophy

Minimum submission review status:		Collection method:
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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.1550C>G (p.Ser517Ter)	rs762398929	0.00002
NM_004183.4(BEST1):c.1740-2A>G	rs1190983296	0.00002
NM_004183.4(BEST1):c.286C>G (p.Gln96Glu)	rs980876322	0.00001
NM_004183.4(BEST1):c.38G>A (p.Arg13His)	rs281865209	0.00001
NM_004183.4(BEST1):c.421C>A (p.Arg141Ser)	rs281865236	0.00001
NM_004183.4(BEST1):c.449G>C (p.Arg150Pro)	rs1249897117	0.00001
NM_004183.4(BEST1):c.5C>G (p.Thr2Ser)	rs1209208472	0.00001
NM_004183.3(BEST1):c.(?_-1)_(152+1_153-1)del
NM_004183.4(BEST1):c.1100+1_1100+10del	rs1941898895
NM_004183.4(BEST1):c.1612G>T (p.Glu538Ter)	rs1942208203
NM_004183.4(BEST1):c.169G>T (p.Glu57Ter)	rs1382219910
NM_004183.4(BEST1):c.16A>G (p.Thr6Ala)	rs28940275
NM_004183.4(BEST1):c.240C>A (p.Phe80Leu)	rs281865221
NM_004183.4(BEST1):c.241G>A (p.Val81Met)	rs1555098634
NM_004183.4(BEST1):c.248-2A>G	rs1941247515
NM_004183.4(BEST1):c.693T>G (p.Ser231Arg)	rs281865244
NM_004183.4(BEST1):c.920C>T (p.Thr307Ile)	rs281865269

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