List of variants in gene BEST1 reported as uncertain significance for MRCS syndrome

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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_004183.3(BEST1):c.-121C>T	rs562849665	0.00004
NM_004183.4(BEST1):c.1330G>A (p.Ala444Thr)	rs765604572	0.00002
NM_004183.4(BEST1):c.139C>T (p.Arg47Cys)	rs765333778	0.00002
NM_004183.4(BEST1):c.302C>T (p.Pro101Leu)	rs374517178	0.00002
NM_004183.3(BEST1):c.-125G>A	rs886048424	0.00001
NM_004183.4(BEST1):c.1267G>A (p.Glu423Lys)	rs779855350	0.00001
NM_004183.4(BEST1):c.1457C>T (p.Pro486Leu)	rs886048428	0.00001
NM_004183.4(BEST1):c.1532A>G (p.Lys511Arg)	rs1199787091	0.00001
NM_004183.4(BEST1):c.699A>G (p.Pro233=)	rs760816505	0.00001
NM_004183.4(BEST1):c.813C>T (p.Leu271=)	rs370397270	0.00001
NM_004183.4(BEST1):c.822C>T (p.Pro274=)	rs759678509	0.00001
NM_004183.4(BEST1):c.-66G>T	rs886048425
NM_004183.4(BEST1):c.1067G>T (p.Arg356Leu)	rs751707411
NM_004183.4(BEST1):c.1157A>C (p.His386Pro)	rs886048427
NM_004183.4(BEST1):c.1583A>G (p.Glu528Gly)	rs757181644
NM_004183.4(BEST1):c.1681A>G (p.Thr561Ala)	rs281865283
NM_004183.4(BEST1):c.229C>A (p.Pro77Thr)	rs1941154059
NM_004183.4(BEST1):c.351G>A (p.Lys117=)	rs886048426

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