ClinVar Miner

List of variants reported as pathogenic for Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2

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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.1280G>A (p.Trp427Ter)	rs2031551927

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