ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
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_004183.3(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.56G>A (p.Arg19His) rs752923595 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
NM_004183.4(BEST1):c.362G>C (p.Gly121Ala)

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