ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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NM_001363592.1(BEST1):c.-121C>T rs562849665
NM_001363592.1(BEST1):c.-125G>A rs886048424
NM_004183.4(BEST1):c.-66G>T rs886048425
NM_004183.4(BEST1):c.1157A>C (p.His386Pro) rs886048427
NM_004183.4(BEST1):c.1330G>A (p.Ala444Thr) rs765604572
NM_004183.4(BEST1):c.139C>T (p.Arg47Cys) rs765333778
NM_004183.4(BEST1):c.1457C>T (p.Pro486Leu) rs886048428
NM_004183.4(BEST1):c.152+6G>T rs764420497
NM_004183.4(BEST1):c.1583A>G (p.Glu528Gly) rs757181644
NM_004183.4(BEST1):c.351G>A (p.Lys117=) rs886048426
NM_004183.4(BEST1):c.699A>G (p.Pro233=) rs760816505
NM_004183.4(BEST1):c.813C>T (p.Leu271=) rs370397270
NM_004183.4(BEST1):c.954C>G (p.Ser318=) rs144231113

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