ClinVar Miner

List of variants reported as likely pathogenic by Center for Reproductive Medicine, Peking University Third Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000540.3(RYR1):c.2286del (p.Val763fs)
NM_001142864.4(PIEZO1):c.1536_1537del (p.Cys513fs)
NM_001142864.4(PIEZO1):c.4610_4617dup (p.Ser1540delinsAlaProTer)
NM_001286577.2(C2CD3):c.159_160insC (p.Lys54fs)
NM_001377.3(DYNC2H1):c.5920G>T (p.Gly1974Ter)
NM_001384125.1(KIAA1109):c.3323+1G>A
NM_001384125.1(KIAA1109):c.692del (p.Phe231fs)
NM_001384732.1(CPLANE1):c.3707delinsTT (p.Pro1236fs)
NM_001384732.1(CPLANE1):c.8155_8156del (p.Ser2719fs)
NM_005089.4(ZRSR2):c.1207_1208del (p.Arg403fs)
NM_005199.5(CHRNG):c.13C>T (p.Gln5Ter) rs267606725
NM_005199.5(CHRNG):c.202C>T (p.Arg68Ter) rs764266722
NM_007363.5(NONO):c.246_249del (p.Pro83fs)
NM_014009.4(FOXP3):c.1117TTC[1] (p.Phe374del)
NM_015531.6(C2CD3):c.3741G>C (p.Gln1247His) rs151187151
NM_031307.4(PUS3):c.340T>C (p.Cys114Arg)
NM_031307.4(PUS3):c.838C>T (p.Arg280Ter)
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_181789.4(GLDN):c.1027G>A (p.Gly343Ser)

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.