ClinVar Miner

List of variants in gene SHANK3 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001372044.2(SHANK3):c.5185C>A (p.Pro1729Thr) rs749130556 0.00319
NM_001372044.2(SHANK3):c.2324+9T>C rs143935032 0.00282
NM_001372044.2(SHANK3):c.1190+7C>T rs186106384 0.00149
NM_001372044.2(SHANK3):c.4118G>A (p.Arg1373Lys) rs201483867 0.00081
NM_001372044.2(SHANK3):c.1248G>A (p.Ser416=) rs372822152 0.00022
NM_001372044.2(SHANK3):c.1398C>G (p.Pro466=) rs371565755 0.00013
NM_001372044.2(SHANK3):c.2184T>C (p.Gly728=) rs747708688 0.00005
NM_001372044.2(SHANK3):c.651C>T (p.Asn217=) rs751998473 0.00005
NM_001372044.2(SHANK3):c.1513G>A (p.Gly505Ser) rs563454435 0.00004
NM_001372044.2(SHANK3):c.928C>T (p.Leu310=) rs756340256 0.00003
NM_001372044.2(SHANK3):c.2145G>A (p.Lys715=) rs373607816 0.00001
NM_001372044.2(SHANK3):c.4211C>T (p.Ser1404Leu) rs1464985103 0.00001
NM_001372044.2(SHANK3):c.1353T>C (p.Asp451=) rs1196417230
NM_001372044.2(SHANK3):c.3806T>C (p.Met1269Thr) rs797045960
NM_001372044.2(SHANK3):c.4756C>T (p.Leu1586=) rs2146833802
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772

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.