ClinVar Miner

List of variants in gene SMARCA2 reported as pathogenic for congenital nervous system disorder

Included ClinVar conditions (854):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.2564G>A (p.Arg855Gln) rs1471482709 0.00001
NG_032162.2:g.118997_171770del
NM_003070.5(SMARCA2):c.1585C>G (p.Leu529Val) rs1586660389
NM_003070.5(SMARCA2):c.2255G>C (p.Gly752Ala) rs281875198
NM_003070.5(SMARCA2):c.2258T>A (p.Leu753His) rs2130464312
NM_003070.5(SMARCA2):c.2361C>A (p.Asn787Lys) rs1343138502
NM_003070.5(SMARCA2):c.2383T>C (p.Trp795Arg) rs1821653681
NM_003070.5(SMARCA2):c.2486C>T (p.Thr829Ile) rs797045974
NM_003070.5(SMARCA2):c.2554G>C (p.Glu852Gln) rs281875199
NM_003070.5(SMARCA2):c.2561A>T (p.His854Leu) rs281875202
NM_003070.5(SMARCA2):c.2563C>G (p.Arg855Gly) rs281875207
NM_003070.5(SMARCA2):c.2642G>T (p.Gly881Val) rs281875185
NM_003070.5(SMARCA2):c.2648C>T (p.Pro883Leu) rs281875188
NM_003070.5(SMARCA2):c.2815C>T (p.His939Tyr) rs281875190
NM_003070.5(SMARCA2):c.2838A>C (p.Leu946Phe)
NM_003070.5(SMARCA2):c.2853G>C (p.Lys951Asn) rs1554624100
NM_003070.5(SMARCA2):c.3220C>G (p.Gln1074Glu) rs1822649338
NM_003070.5(SMARCA2):c.3292G>A (p.Gly1098Ser)
NM_003070.5(SMARCA2):c.3313C>T (p.Arg1105Cys) rs281875192
NM_003070.5(SMARCA2):c.3314G>A (p.Arg1105His) rs281875197
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro) rs281875197
NM_003070.5(SMARCA2):c.3395G>A (p.Gly1132Asp) rs387907194
NM_003070.5(SMARCA2):c.3473A>T (p.Asp1158Val) rs281875240
NM_003070.5(SMARCA2):c.3475C>G (p.Arg1159Gly) rs281875184
NM_003070.5(SMARCA2):c.3476G>A (p.Arg1159Gln) rs281875187
NM_003070.5(SMARCA2):c.3476G>T (p.Arg1159Leu) rs281875187
NM_003070.5(SMARCA2):c.3479C>G (p.Ala1160Gly) rs2130599529
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys) rs1057518414
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His) rs281875186
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003070.5(SMARCA2):c.3604G>T (p.Gly1202Cys) rs281875239
NM_003070.5(SMARCA2):c.3637C>T (p.Arg1213Trp) rs281875238
NM_003070.5(SMARCA2):c.3655G>C (p.Ala1219Pro)

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.