ClinVar Miner

List of variants in gene SYN1 reported as likely pathogenic for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474 0.00038
NM_006950.3(SYN1):c.1258C>T (p.Arg420Trp) rs780269723 0.00001
NM_006950.3(SYN1):c.1259G>A (p.Arg420Gln) rs941190653 0.00001
NC_000023.10:g.(?_47432243)_(47436920_?)del
NM_006950.3(SYN1):c.1158+1G>T
NM_006950.3(SYN1):c.1159-2A>G
NM_006950.3(SYN1):c.1439dup (p.Leu481fs) rs1556857481
NM_006950.3(SYN1):c.1471del (p.Gln491fs) rs2147912333
NM_006950.3(SYN1):c.2028C>T (p.Ala676=) rs2057764630
NM_006950.3(SYN1):c.314del (p.Gly105fs) rs1603078587
NM_006950.3(SYN1):c.378-1G>A rs2057900552
NM_006950.3(SYN1):c.528-2A>T rs1556860663
NM_006950.3(SYN1):c.614T>A (p.Leu205Gln) rs2057892972
NM_006950.3(SYN1):c.745C>T (p.Gln249Ter) rs2057891984
NM_006950.3(SYN1):c.838-2A>G rs2147913419
NM_006950.3(SYN1):c.954G>T (p.Lys318Asn)
NM_006950.3(SYN1):c.986C>T (p.Thr329Met) rs2057777813

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.