ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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.131C>G (p.Ser44Trp) rs373862041 0.00037
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.356A>G (p.His119Arg) rs1402052236 0.00002
NM_003620.4(PPM1D):c.1281G>A (p.Trp427Ter) rs1064797099 0.00001
NM_003620.4(PPM1D):c.134T>C (p.Leu45Pro) rs1433961136 0.00001
NM_003620.4(PPM1D):c.1015A>G (p.Met339Val)
NM_003620.4(PPM1D):c.1017+10G>T
NM_003620.4(PPM1D):c.1018-11T>G
NM_003620.4(PPM1D):c.1203dup (p.Asn402Ter)
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.1221_1222insTC (p.Val408fs) rs2143719799
NM_003620.4(PPM1D):c.1224dup (p.Met409fs)
NM_003620.4(PPM1D):c.1237_1238del (p.Pro413fs) rs1555648565
NM_003620.4(PPM1D):c.1244dup (p.Thr416fs) rs2143719857
NM_003620.4(PPM1D):c.1248_1252del (p.Pro417fs) rs1567977657
NM_003620.4(PPM1D):c.1249_1250insA (p.Pro417fs)
NM_003620.4(PPM1D):c.1250dup (p.Pro418fs) rs1064797100
NM_003620.4(PPM1D):c.1259dup (p.Ser421fs) rs1598413570
NM_003620.4(PPM1D):c.1262C>A (p.Ser421Ter)
NM_003620.4(PPM1D):c.1270dup (p.Glu424fs) rs1064797098
NM_003620.4(PPM1D):c.1273_1274insT (p.Asp425fs)
NM_003620.4(PPM1D):c.1277del (p.Pro426fs) rs1555649009
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.1349T>G (p.Leu450Ter)
NM_003620.4(PPM1D):c.1372C>T (p.Arg458Ter)
NM_003620.4(PPM1D):c.1384C>T (p.Gln462Ter)
NM_003620.4(PPM1D):c.1388_1389delinsA (p.Gly463fs) rs2031555258
NM_003620.4(PPM1D):c.1412del (p.Pro471fs) rs780195897
NM_003620.4(PPM1D):c.1434C>A (p.Cys478Ter)
NM_003620.4(PPM1D):c.1503_1507del (p.Ser503fs)
NM_003620.4(PPM1D):c.1535del (p.Asn512fs) rs763475304
NM_003620.4(PPM1D):c.1606del (p.Arg536fs) rs2031564242
NM_003620.4(PPM1D):c.1727_1728delinsC (p.Val576fs) rs2143733522
NM_003620.4(PPM1D):c.1728del (p.Lys577fs)
NM_003620.4(PPM1D):c.267C>G (p.Ser89Arg) rs900654745
NM_003620.4(PPM1D):c.756_759del (p.His253fs)

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.