ClinVar Miner

List of variants in gene PPM1D studied for Inborn genetic diseases

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_003620.4(PPM1D):c.147G>C (p.Leu49Phe) rs769792358 0.00007
NM_003620.4(PPM1D):c.1573G>T (p.Glu525Ter) rs759850701 0.00001
NM_003620.4(PPM1D):c.1037G>T (p.Cys346Phe)
NM_003620.4(PPM1D):c.1103C>T (p.Thr368Ile)
NM_003620.4(PPM1D):c.1210C>T (p.Gln404Ter) rs768126695
NM_003620.4(PPM1D):c.1213G>T (p.Glu405Ter) rs2031447940
NM_003620.4(PPM1D):c.1216del (p.Thr406fs) rs747947002
NM_003620.4(PPM1D):c.1226_1227del (p.Met409fs) rs1555648564
NM_003620.4(PPM1D):c.1254dup (p.Val419fs) rs2031449441
NM_003620.4(PPM1D):c.1262C>G (p.Ser421Ter) rs2031551111
NM_003620.4(PPM1D):c.1269_1270del (p.Glu424fs) rs2031551420
NM_003620.4(PPM1D):c.1388G>A (p.Gly463Asp)
NM_003620.4(PPM1D):c.1514del (p.Asn505fs)
NM_003620.4(PPM1D):c.160T>G (p.Ser54Ala)
NM_003620.4(PPM1D):c.1637del (p.Leu546fs) rs1382039751
NM_003620.4(PPM1D):c.167C>G (p.Ala56Gly)
NM_003620.4(PPM1D):c.1715G>C (p.Arg572Pro) rs1179832290
NM_003620.4(PPM1D):c.1724C>T (p.Ser575Phe)
NM_003620.4(PPM1D):c.172C>G (p.Leu58Val)
NM_003620.4(PPM1D):c.1732C>T (p.Leu578Phe)
NM_003620.4(PPM1D):c.1786C>T (p.His596Tyr)
NM_003620.4(PPM1D):c.179G>A (p.Gly60Asp)
NM_003620.4(PPM1D):c.1811T>C (p.Val604Ala)
NM_003620.4(PPM1D):c.349C>G (p.Arg117Gly)

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