ClinVar Miner

List of variants in gene PPM1K reported as uncertain significance for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_152542.5(PPM1K):c.1055A>G (p.Tyr352Cys) rs149003637 0.00016
NM_152542.5(PPM1K):c.670A>G (p.Ile224Val) rs146226844 0.00012
NM_152542.5(PPM1K):c.388G>A (p.Gly130Ser) rs371035911 0.00010
NM_152542.5(PPM1K):c.974C>T (p.Ala325Val) rs142490765 0.00010
NM_152542.5(PPM1K):c.145C>T (p.Arg49Trp) rs758727668 0.00006
NM_152542.5(PPM1K):c.208C>T (p.Arg70Cys) rs372205324 0.00006
NM_152542.5(PPM1K):c.1075T>A (p.Phe359Ile) rs149239581 0.00004
NM_152542.5(PPM1K):c.526C>T (p.Arg176Cys) rs150935940 0.00004
NM_152542.5(PPM1K):c.527G>A (p.Arg176His) rs555916014 0.00004
NM_152542.5(PPM1K):c.77G>A (p.Arg26His) rs369916009 0.00004
NM_152542.5(PPM1K):c.110C>T (p.Thr37Met) rs537053098 0.00003
NM_152542.5(PPM1K):c.1057A>G (p.Lys353Glu) rs199904313 0.00002
NM_152542.5(PPM1K):c.475C>G (p.Leu159Val) rs147734869 0.00001
NM_152542.5(PPM1K):c.48G>T (p.Gln16His) rs775889692 0.00001
NM_152542.5(PPM1K):c.542-3T>C rs534271377 0.00001
NM_152542.5(PPM1K):c.587G>A (p.Arg196Gln) rs1175714323 0.00001
NM_152542.5(PPM1K):c.601C>G (p.Leu201Val) rs1731442831 0.00001
NM_152542.5(PPM1K):c.730G>A (p.Val244Ile) rs1014204002 0.00001
NM_152542.5(PPM1K):c.988-7C>G rs1335866068 0.00001
NC_000004.11:g.(?_89183747)_(89199735_?)dup
NC_000004.12:g.(?_88262575)_(88278603_?)del
NM_152542.5(PPM1K):c.1034C>T (p.Pro345Leu)
NM_152542.5(PPM1K):c.1096G>T (p.Ala366Ser)
NM_152542.5(PPM1K):c.1100C>G (p.Ser367Cys)
NM_152542.5(PPM1K):c.118A>C (p.Ser40Arg) rs2110171811
NM_152542.5(PPM1K):c.155C>T (p.Pro52Leu)
NM_152542.5(PPM1K):c.188A>G (p.Asn63Ser)
NM_152542.5(PPM1K):c.209G>A (p.Arg70His)
NM_152542.5(PPM1K):c.235C>A (p.Pro79Thr)
NM_152542.5(PPM1K):c.248A>T (p.Tyr83Phe)
NM_152542.5(PPM1K):c.259A>G (p.Ile87Val)
NM_152542.5(PPM1K):c.292G>A (p.Ala98Thr)
NM_152542.5(PPM1K):c.308A>G (p.Lys103Arg)
NM_152542.5(PPM1K):c.311G>A (p.Arg104Gln) rs1221527325
NM_152542.5(PPM1K):c.328C>T (p.Arg110Trp)
NM_152542.5(PPM1K):c.352G>C (p.Asp118His)
NM_152542.5(PPM1K):c.417_418del (p.Thr140fs)
NM_152542.5(PPM1K):c.47A>C (p.Gln16Pro) rs2110171996
NM_152542.5(PPM1K):c.509C>A (p.Ala170Asp) rs770171465
NM_152542.5(PPM1K):c.515C>T (p.Ser172Leu)
NM_152542.5(PPM1K):c.526C>G (p.Arg176Gly) rs150935940
NM_152542.5(PPM1K):c.542C>T (p.Ala181Val)
NM_152542.5(PPM1K):c.554C>A (p.Thr185Asn) rs866594106
NM_152542.5(PPM1K):c.592G>T (p.Gly198Cys)
NM_152542.5(PPM1K):c.595A>G (p.Ile199Val) rs1427854407
NM_152542.5(PPM1K):c.647A>G (p.Lys216Arg)
NM_152542.5(PPM1K):c.680C>T (p.Thr227Ile)
NM_152542.5(PPM1K):c.757C>T (p.His253Tyr)
NM_152542.5(PPM1K):c.760G>A (p.Val254Ile)
NM_152542.5(PPM1K):c.853-9T>G
NM_152542.5(PPM1K):c.917G>C (p.Ser306Thr)
NM_152542.5(PPM1K):c.925A>G (p.Ile309Val)
NM_152542.5(PPM1K):c.971A>G (p.His324Arg) rs1731250018
NM_152542.5(PPM1K):c.973G>A (p.Ala325Thr) rs2110154633
NM_152542.5(PPM1K):c.97C>T (p.Arg33Trp)
NM_152542.5(PPM1K):c.988-15T>A

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