ClinVar Miner

List of variants studied for Coffin-Siris syndrome 1 by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_020732.3(ARID1B):c.1903C>T (p.Gln635Ter) rs387907142
NM_020732.3(ARID1B):c.3223C>T (p.Arg1075Ter) rs387907144
NM_020732.3(ARID1B):c.3304C>T (p.Arg1102Ter) rs387907141
NM_020732.3(ARID1B):c.3323_3324del (p.Lys1108fs) rs876657380
NM_020732.3(ARID1B):c.3919C>T (p.Gln1307Ter) rs387907140
NM_020732.3(ARID1B):c.4038T>A (p.Tyr1346Ter) rs748363079
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_020732.3(ARID1B):c.4622_4631del (p.Gln1541fs) rs876657382
NM_020732.3(ARID1B):c.5329A>T (p.Lys1777Ter) rs387907143
NM_020732.3(ARID1B):c.5566_5569AAGA[1] (p.Lys1857fs) rs886041706
NM_020732.3(ARID1B):c.5632del (p.Asp1878fs) rs876657381
NM_020732.3(ARID1B):c.6463_6473del (p.Ser2155fs) rs876657379

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.