ClinVar Miner

List of variants in gene PPM1D reported as likely pathogenic by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003620.4(PPM1D):c.1277del (p.Pro426fs)	rs1555649009
NM_003620.4(PPM1D):c.1372C>T (p.Arg458Ter)

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