List of variants in gene PPM1D reported as pathogenic for Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
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.1281G>A (p.Trp427Ter)	rs1064797099	0.00001
NM_003620.4(PPM1D):c.1216del (p.Thr406fs)	rs747947002
NM_003620.4(PPM1D):c.1216dup (p.Thr406fs)
NM_003620.4(PPM1D):c.1221T>A (p.Cys407Ter)	rs189669693
NM_003620.4(PPM1D):c.1248_1252del (p.Pro417fs)	rs1567977657
NM_003620.4(PPM1D):c.1250dup (p.Pro418fs)	rs1064797100
NM_003620.4(PPM1D):c.1259dup (p.Ser421fs)	rs1598413570
NM_003620.4(PPM1D):c.1270dup (p.Glu424fs)	rs1064797098
NM_003620.4(PPM1D):c.1278dup (p.Trp427fs)	rs2031551825
NM_003620.4(PPM1D):c.1280G>A (p.Trp427Ter)
NM_003620.4(PPM1D):c.1288del (p.Arg429_Val430insTer)
NM_003620.4(PPM1D):c.1388_1389delinsA (p.Gly463fs)	rs2031555258
NM_003620.4(PPM1D):c.1503_1507del (p.Ser503fs)
NM_003620.4(PPM1D):c.1535del (p.Asn512fs)	rs763475304

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