ClinVar Miner

List of variants studied for Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
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.1221T>A (p.Cys407Ter) rs189669693
NM_003620.4(PPM1D):c.1250dup (p.Pro418fs) rs1064797100
NM_003620.4(PPM1D):c.1270dup (p.Glu424fs) rs1064797098

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