ClinVar Miner

List of variants in gene PPM1D reported as pathogenic by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003620.4(PPM1D):c.1210C>T (p.Gln404Ter) rs768126695
NM_003620.4(PPM1D):c.1213G>T (p.Glu405Ter) rs2031447940
NM_003620.4(PPM1D):c.1216del (p.Thr406fs) rs747947002
NM_003620.4(PPM1D):c.1269_1270del (p.Glu424fs) rs2031551420

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