ClinVar Miner

List of variants reported as likely pathogenic by The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000098.3(CPT2):c.1033G>A (p.Gly345Arg) rs771214714
NM_000098.3(CPT2):c.764A>G (p.Asp255Gly) rs199673903
NM_000153.4(GALC):c.869G>A (p.Arg290His) rs746806459
NM_000397.4(CYBB):c.1139G>A (p.Trp380Ter) rs1602183244
NM_000416.3(IFNGR1):c.295T>C (p.Trp99Arg) rs1582637044
NM_000944.5(PPP3CA):c.1253_1254AG[1] (p.Ser419fs) rs1553920383
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
NM_001177316.2(SLC34A3):c.589A>G (p.Ile197Val)
NM_002578.5(PAK3):c.1112G>A (p.Cys371Tyr) rs1603377813
NM_015713.5(RRM2B):c.128T>A (p.Val43Asp) rs1587186073
NM_020751.3(COG6):c.540G>A (p.Glu180=) rs1593418085
NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter) rs1580394197

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.