ClinVar Miner

List of variants in gene BEST1 studied for MRCS syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_001363592.1(BEST1):c.-121C>T rs562849665
NM_001363592.1(BEST1):c.-125G>A rs886048424
NM_001363592.1(BEST1):c.-221T>C rs972353
NM_001363592.1(BEST1):c.-329C>T rs972354
NM_001363592.1(BEST1):c.-373T>A rs117165769
NM_001363592.1(BEST1):c.-428C>T rs77151527
NM_001363592.1(BEST1):c.-536T>C rs137965157
NM_004183.4(BEST1):c.-66G>T rs886048425
NM_004183.4(BEST1):c.109T>C (p.Leu37=) rs1800007
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.201G>C (p.Leu67=) rs1801393
NM_004183.4(BEST1):c.213C>T (p.Ser71=) rs57132800
NM_004183.4(BEST1):c.219C>A (p.Ile73=) rs1109748
NM_004183.4(BEST1):c.256G>A (p.Val86Met) rs121918289
NM_004183.4(BEST1):c.351G>A (p.Lys117=) rs886048426
NM_004183.4(BEST1):c.422G>A (p.Arg141His) rs121918284
NM_004183.4(BEST1):c.495G>A (p.Pro165=) rs182941675
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691
NM_004183.4(BEST1):c.637-6C>T rs62639356
NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004183.4(BEST1):c.696C>A (p.Ile232=) rs1805140
NM_004183.4(BEST1):c.699A>G (p.Pro233=) rs760816505
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.813C>T (p.Leu271=) rs370397270
NM_004183.4(BEST1):c.954C>G (p.Ser318=) rs144231113

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.