ClinVar Miner

List of variants in gene INF2 reported as pathogenic by Invitae

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_022489.4(INF2):c.641G>A (p.Arg214His) rs267606879 0.00001
NM_022489.4(INF2):c.148T>G (p.Tyr50Asp) rs1555373261
NM_022489.4(INF2):c.170T>C (p.Leu57Pro) rs1595163736
NM_022489.4(INF2):c.218G>T (p.Gly73Val) rs918089359
NM_022489.4(INF2):c.230T>C (p.Leu77Pro) rs1595163851
NM_022489.4(INF2):c.271C>G (p.Arg91Gly) rs200247054
NM_022489.4(INF2):c.310T>C (p.Cys104Arg) rs387907034
NM_022489.4(INF2):c.312C>G (p.Cys104Trp) rs387907036
NM_022489.4(INF2):c.341G>A (p.Gly114Asp) rs1595164091
NM_022489.4(INF2):c.383T>C (p.Leu128Pro) rs387907037
NM_022489.4(INF2):c.395T>C (p.Leu132Pro) rs387907038
NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del) rs1555373599
NM_022489.4(INF2):c.550G>A (p.Glu184Lys) rs1566778676
NM_022489.4(INF2):c.640C>T (p.Arg214Cys) rs912928648
NM_022489.4(INF2):c.652C>T (p.Arg218Trp) rs267606878
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015

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.