ClinVar Miner

List of variants in gene PPT1 reported by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_000310.4(PPT1):c.529C>G (p.Gln177Glu) rs386833650 0.00003
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr) rs386833640 0.00002
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro) rs386833639 0.00001
NM_000310.4(PPT1):c.325T>G (p.Tyr109Asp) rs386833642 0.00001
NM_000310.4(PPT1):c.3G>A (p.Met1Ile) rs386833645 0.00001
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter) rs386833649 0.00001
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys) rs386833655 0.00001
NM_000310.4(PPT1):c.566C>G (p.Pro189Arg) rs386833658 0.00001
NM_000310.4(PPT1):c.628-1G>T rs386833659 0.00001
NM_000310.4(PPT1):c.665T>C (p.Leu222Pro) rs386833661 0.00001
NM_000310.4(PPT1):c.739T>C (p.Tyr247His) rs386833665 0.00001
NM_000310.4(PPT1):c.*526_*529del rs386833624
NM_000310.4(PPT1):c.114G>A (p.Trp38Ter) rs386833626
NM_000310.4(PPT1):c.114G>T (p.Trp38Cys) rs386833626
NM_000310.4(PPT1):c.114del (p.Trp38fs) rs386833625
NM_000310.4(PPT1):c.117T>A (p.His39Gln) rs386833627
NM_000310.4(PPT1):c.125-15T>G rs386833629
NM_000310.4(PPT1):c.125-2A>G rs386833630
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.4(PPT1):c.135_137dup (p.Cys46dup) rs386833632
NM_000310.4(PPT1):c.163A>T (p.Lys55Ter) rs386833633
NM_000310.4(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.4(PPT1):c.175del (p.Glu59fs) rs386833635
NM_000310.4(PPT1):c.235-3T>C rs386833636
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del) rs386833637
NM_000310.4(PPT1):c.271_287delinsTT (p.Gln91_Cys96delinsPhe) rs386833638
NM_000310.4(PPT1):c.310A>T (p.Lys104Ter) rs386833641
NM_000310.4(PPT1):c.363-3T>G rs386833643
NM_000310.4(PPT1):c.398del (p.Met133fs) rs386833644
NM_000310.4(PPT1):c.455G>A (p.Cys152Tyr) rs386833647
NM_000310.4(PPT1):c.456C>A (p.Cys152Ter) rs386833648
NM_000310.4(PPT1):c.536+1G>A rs386833651
NM_000310.4(PPT1):c.536+2T>C rs386833652
NM_000310.4(PPT1):c.538dup (p.Leu180fs) rs386833653
NM_000310.4(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.4(PPT1):c.544C>T (p.Gln182Ter) rs386833654
NM_000310.4(PPT1):c.558G>A (p.Trp186Ter) rs386833656
NM_000310.4(PPT1):c.560A>G (p.His187Arg) rs386833657
NM_000310.4(PPT1):c.644del (p.Tyr215fs) rs386833660
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser) rs386833662
NM_000310.4(PPT1):c.683T>G (p.Val228Gly) rs386833663
NM_000310.4(PPT1):c.727-2A>T rs386833664
NM_000310.4(PPT1):c.749G>T (p.Gly250Val) rs386833666
NM_000310.4(PPT1):c.774dup (p.Gln259fs) rs386833667
NM_000310.4(PPT1):c.871C>T (p.Gln291Ter) rs386833668
NM_000310.4(PPT1):c.886T>C (p.Trp296Arg) rs386833669
NM_000310.4(PPT1):c.888G>A (p.Trp296Ter) rs386833670
NM_000310.4(PPT1):c.914T>C (p.Leu305Pro) rs386833671

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