List of variants reported as uncertain significance for Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

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Total variants: 12

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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.1714C>T (p.Arg572Ter)	rs765769406	0.00002
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.1015A>G (p.Met339Val)
NM_003620.4(PPM1D):c.1017+10G>T
NM_003620.4(PPM1D):c.1018-11T>G
NM_003620.4(PPM1D):c.1203dup (p.Asn402Ter)
NM_003620.4(PPM1D):c.1727_1728delinsC (p.Val576fs)	rs2143733522
NM_003620.4(PPM1D):c.1728del (p.Lys577fs)
NM_003620.4(PPM1D):c.267C>G (p.Ser89Arg)	rs900654745
NM_003620.4(PPM1D):c.756_759del (p.His253fs)

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