ClinVar Miner

List of variants reported as pathogenic by Core Molecular Diagnostic Lab, McGill University Health Centre

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000277.3(PAH):c.470_471delinsAC (p.Arg157Asn) rs1565853495
NM_000350.3(ABCA4):c.2587+2T>C rs1557783989
NM_000518.5(HBB):c.0_92+25del rs1564875707
NM_001142416.2(AIMP1):c.162del (p.Lys54fs) rs750731609
NM_001792.5(CDH2):c.1057G>A (p.Asp353Asn) rs1599017933
NM_001792.5(CDH2):c.1789G>A (p.Asp597Asn) rs1599011050
NM_001792.5(CDH2):c.1789G>T (p.Asp597Tyr) rs1599011050
NM_001792.5(CDH2):c.1802A>C (p.Asn601Thr) rs201775968
NM_001792.5(CDH2):c.1839C>G (p.Cys613Trp) rs754880999
NM_001792.5(CDH2):c.1880A>G (p.Asp627Gly) rs1599010918
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys) rs199984052
NM_001792.5(CDH2):c.2563_2564del (p.Leu855fs) rs1598982488
NM_001792.5(CDH2):c.2564_2567dup (p.Leu856fs) rs1598982483
NM_004004.6(GJB2):c.122AGG[1] (p.Glu42del) rs1566528901
NM_005228.5(EGFR):c.2303_2305delinsTCT (p.Ser768_Val769delinsIleLeu) rs1584238193
NM_014297.5(ETHE1):c.79C>A (p.Gln27Lys) rs749803238
NM_014855.3(AP5Z1):c.1343_1346dup (p.Glu449fs) rs1562410566

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.