ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003620.4(PPM1D):c.131C>G (p.Ser44Trp) rs373862041 0.00037
NM_003620.4(PPM1D):c.1017+10G>T
NM_003620.4(PPM1D):c.1224dup (p.Met409fs)
NM_003620.4(PPM1D):c.1244dup (p.Thr416fs) rs2143719857
NM_003620.4(PPM1D):c.756_759del (p.His253fs)

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