ClinVar Miner

List of variants reported as likely pathogenic by Shen Lab, Columbia University Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003917.5(AP1G2):c.464G>A (p.Arg155His) rs200202756 0.00007
NM_001408.3(CELSR2):c.2858A>G (p.Asn953Ser) rs1223692503 0.00002
NM_005401.5(PTPN14):c.1919G>A (p.Arg640His) rs774735121 0.00002
NM_015395.3(TECPR1):c.2617G>A (p.Asp873Asn) rs767020833 0.00002
NM_005585.5(SMAD6):c.1093G>A (p.Gly365Ser) rs1176080464 0.00001
NM_012414.4(RAB3GAP2):c.1379G>A (p.Arg460Gln) rs757551395 0.00001
NM_014991.6(WDFY3):c.3737A>G (p.Tyr1246Cys) rs751185435 0.00001
NM_152698.3(AMER3):c.2236C>T (p.Arg746Ter) rs768719549 0.00001
NM_198317.3(KLHL17):c.1682C>A (p.Ala561Glu) rs756054473 0.00001
NM_000819.5(GART):c.1907T>G (p.Leu636Arg) rs2084898135
NM_000938.3(POLR2B):c.2123C>T (p.Ala708Val) rs1723396043
NM_001288772.2(PIK3C2G):c.761+2T>C rs1949470660
NM_001354761.2(ADD1):c.1A>G (p.Met1Val) rs1731205978
NM_001520.4(GTF3C1):c.6040C>A (p.Pro2014Thr) rs750159671
NM_002163.4(IRF8):c.814G>A (p.Gly272Arg) rs1905412024
NM_003024.3(ITSN1):c.4381C>T (p.Arg1461Cys) rs1985063411
NM_005883.3(APC2):c.665T>C (p.Ile222Thr) rs2083820577
NM_014905.5(GLS):c.1940C>T (p.Thr647Ile) rs1691037804
NM_017442.4(TLR9):c.548C>G (p.Pro183Arg) rs780099835
NM_032420.5(PCDH1):c.353A>G (p.Glu118Gly) rs1753000062
NM_203403.2(LURAP1L):c.346C>T (p.Arg116Cys) rs754557712

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.