ClinVar Miner

List of variants in gene PPM1D reported as uncertain significance for Inborn genetic diseases

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_003620.4(PPM1D):c.179G>A (p.Gly60Asp) rs774135477 0.00004
NM_003620.4(PPM1D):c.1080G>C (p.Gln360His) rs1429799869 0.00001
NM_003620.4(PPM1D):c.1573G>T (p.Glu525Ter) rs759850701 0.00001
NM_003620.4(PPM1D):c.1786C>T (p.His596Tyr) rs541664685 0.00001
NM_003620.4(PPM1D):c.1811T>C (p.Val604Ala) rs2544471005 0.00001
NM_003620.4(PPM1D):c.1814G>A (p.Cys605Tyr) rs770363461 0.00001
NM_003620.4(PPM1D):c.1016T>A (p.Met339Lys)
NM_003620.4(PPM1D):c.1058G>A (p.Arg353Gln)
NM_003620.4(PPM1D):c.1103C>T (p.Thr368Ile) rs2031445237
NM_003620.4(PPM1D):c.112A>C (p.Lys38Gln) rs1487466505
NM_003620.4(PPM1D):c.112A>G (p.Lys38Glu) rs1487466505
NM_003620.4(PPM1D):c.1182C>A (p.Asn394Lys)
NM_003620.4(PPM1D):c.1303C>G (p.His435Asp)
NM_003620.4(PPM1D):c.1514del (p.Asn505fs) rs765849818
NM_003620.4(PPM1D):c.1516_1517del (p.Thr506fs) rs2544470319
NM_003620.4(PPM1D):c.160T>G (p.Ser54Ala) rs2030183178
NM_003620.4(PPM1D):c.1615_1616delinsT (p.Leu538_Glu539insTer)
NM_003620.4(PPM1D):c.1616A>T (p.Glu539Val)
NM_003620.4(PPM1D):c.1637del (p.Leu546fs) rs1382039751
NM_003620.4(PPM1D):c.1715G>C (p.Arg572Pro) rs1179832290
NM_003620.4(PPM1D):c.1722C>A (p.Asn574Lys)
NM_003620.4(PPM1D):c.1724C>T (p.Ser575Phe) rs1000741337
NM_003620.4(PPM1D):c.172C>G (p.Leu58Val) rs775961598
NM_003620.4(PPM1D):c.172C>T (p.Leu58Phe) rs775961598
NM_003620.4(PPM1D):c.233C>T (p.Pro78Leu) rs1289294131
NM_003620.4(PPM1D):c.267C>G (p.Ser89Arg) rs900654745

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