ClinVar Miner

List of variants reported as likely pathogenic for adenocarcinoma by Molecular Oncology - Human Genetics Lab, University of Sao Paulo

Included ClinVar conditions (112):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile) rs149487315 0.00091
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625 0.00083
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val) rs142936491 0.00029
NM_000537.4(REN):c.1216C>T (p.Arg406Cys) rs547414447 0.00018
NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr) rs201433984 0.00014
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val) rs587779357 0.00006
NM_001360.3(DHCR7):c.583G>A (p.Ala195Thr) rs151170252 0.00004
NM_000094.4(COL7A1):c.1370C>T (p.Pro457Leu) rs200396882 0.00003
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg) rs878853996 0.00003
NM_004260.4(RECQL4):c.1096G>C (p.Gly366Arg) rs763114749 0.00001
NM_000123.4(ERCC5):c.1081del (p.Leu361fs) rs2140527110
NM_000251.3(MSH2):c.134C>A (p.Ala45Glu) rs63750285
NM_000551.4(VHL):c.154G>A (p.Glu52Lys) rs373068386
NM_207122.2(EXT2):c.1242C>T (p.Ile414=) rs2135127852

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.