ClinVar Miner

List of variants in gene SMARCA2 reported as likely benign for Nicolaides-Baraitser syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899 0.00083
NM_003070.5(SMARCA2):c.1746+10C>T rs140722679 0.00043
NM_003070.5(SMARCA2):c.459G>A (p.Pro153=) rs375996388 0.00022
NM_003070.5(SMARCA2):c.*9G>C rs561093327 0.00015
NM_003070.5(SMARCA2):c.957C>G (p.Leu319=) rs368952400 0.00009
NM_003070.5(SMARCA2):c.175A>T (p.Thr59Ser) rs138129490 0.00008
NM_003070.5(SMARCA2):c.3267G>A (p.Arg1089=) rs147154246 0.00006
NM_003070.5(SMARCA2):c.4725G>A (p.Glu1575=) rs61761955 0.00004
NM_003070.5(SMARCA2):c.701A>C (p.Gln234Pro) rs560604623 0.00003
NM_003070.5(SMARCA2):c.4206C>T (p.Asn1402=) rs373924332 0.00002
NM_003070.5(SMARCA2):c.*29C>T rs758742198 0.00001
NM_003070.5(SMARCA2):c.4080T>G (p.Asp1360Glu) rs751758557 0.00001
NM_003070.5(SMARCA2):c.*355dup rs541329338
NM_003070.5(SMARCA2):c.3230C>G (p.Ser1077Cys) rs1822649784
NM_003070.5(SMARCA2):c.3670G>A (p.Glu1224Lys)
NM_003070.5(SMARCA2):c.4029T>A (p.Leu1343=) rs150227062
NM_003070.5(SMARCA2):c.4461+3C>G rs1827087118
NM_003070.5(SMARCA2):c.669GCA[19] (p.Gln233_Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.750A>T (p.Gln250His) rs62639302

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.