ClinVar Miner

List of variants studied for Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003620.4(PPM1D):c.1277del (p.Pro426fs) rs1555649009
NM_003620.4(PPM1D):c.1372C>T (p.Arg458Ter) rs773389405
NM_003620.4(PPM1D):c.1388_1389delinsA (p.Gly463fs) rs2031555258

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