ClinVar Miner

List of variants studied for intellectual disability, autosomal dominant 38

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001958.5(EEF1A2):c.594T>C (p.Gly198=) rs310617 0.57688
NM_001958.5(EEF1A2):c.772+31C>A rs12480745 0.21133
NM_001958.5(EEF1A2):c.1266C>A (p.Gly422=) rs202102758 0.00277
NM_001958.5(EEF1A2):c.183C>T (p.Asp61=) rs147929770 0.00008
NM_001958.5(EEF1A2):c.1182G>T (p.Leu394=) rs199643016 0.00006
NM_001958.5(EEF1A2):c.1136T>C (p.Ile379Thr) rs1490454929 0.00001
NM_001958.5(EEF1A2):c.653G>A (p.Arg218His) rs1459691759 0.00001
NM_001958.5(EEF1A2):c.667G>A (p.Ala223Thr) rs778585590 0.00001
NM_001958.5(EEF1A2):c.1052G>A (p.Gly351Glu)
NM_001958.5(EEF1A2):c.1286T>G (p.Met429Arg)
NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met) rs2082362479
NM_001958.5(EEF1A2):c.1345G>A (p.Gly449Ser) rs2082362096
NM_001958.5(EEF1A2):c.1379A>G (p.Lys460Arg)
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser) rs587777162
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn) rs886041197
NM_001958.5(EEF1A2):c.332G>A (p.Cys111Tyr) rs2145944981
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_001958.5(EEF1A2):c.47T>C (p.Val16Ala) rs1600909763
NM_001958.5(EEF1A2):c.532A>T (p.Ile178Phe) rs765056369
NM_001958.5(EEF1A2):c.71C>T (p.Thr24Met) rs1064795618
NM_001958.5(EEF1A2):c.754G>C (p.Asp252His) rs786205865
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_001958.5(EEF1A2):c.821C>T (p.Pro274Leu)
NM_001958.5(EEF1A2):c.866T>C (p.Val289Ala)
NM_001958.5(EEF1A2):c.958A>G (p.Ile320Val)
NM_001958.5(EEF1A2):c.962G>A (p.Arg321Gln)

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.