ClinVar Miner

List of variants in gene ITGA3 reported as uncertain significance for pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002204.4(ITGA3):c.*48G>A rs139083066 0.00039
NM_002204.4(ITGA3):c.1766G>C (p.Arg589Pro) rs377230398 0.00006
NM_002204.4(ITGA3):c.3104C>T (p.Ala1035Val) rs757812706 0.00006
NM_002204.4(ITGA3):c.2233G>A (p.Asp745Asn) rs369201492 0.00004
NM_002204.4(ITGA3):c.607G>A (p.Gly203Ser) rs201830820 0.00004
NM_002204.4(ITGA3):c.646G>A (p.Gly216Ser) rs772933610 0.00003
NM_002204.4(ITGA3):c.1994G>A (p.Arg665His) rs1908944600 0.00001
NM_002204.4(ITGA3):c.1502A>G (p.Gln501Arg)
NM_002204.4(ITGA3):c.1597G>A (p.Gly533Ser) rs377600580
NM_002204.4(ITGA3):c.2995G>A (p.Val999Met)

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.