ClinVar Miner

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

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003620.4(PPM1D):c.356A>G (p.His119Arg) rs1402052236 0.00002
NM_003620.4(PPM1D):c.134T>C (p.Leu45Pro) rs1433961136 0.00001
NM_003620.4(PPM1D):c.1278dup (p.Trp427fs) rs2031551825

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