ClinVar Miner

List of variants in gene PPM1D studied for Familial cancer of breast

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003620.4(PPM1D):c.456C>T (p.Ala152=) rs149400522 0.00475
NM_003620.4(PPM1D):c.1017+51A>G rs144142345 0.00301
NM_003620.4(PPM1D):c.1405A>G (p.Lys469Glu) rs61756416 0.00044
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter) rs765769406 0.00002
NM_003620.4(PPM1D):c.1267G>T (p.Glu423Ter) rs1057524700
NM_003620.4(PPM1D):c.1423del (p.Glu475fs) rs1271133647
NM_003620.4(PPM1D):c.1535del (p.Asn512fs) rs763475304
NM_003620.4(PPM1D):c.1640T>A (p.Met547Lys) rs2031565605

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.