ClinVar Miner

List of variants studied for Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003620.4(PPM1D):c.1270dup (p.Glu424fs) rs1064797098
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)

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