ClinVar Miner

List of variants in gene PPT1 reported as uncertain significance for Ceroid lipofuscinosis neuronal 1

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Total variants: 46
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HGVS dbSNP
NC_000001.10:g.(?_40539713)_(40562930_?)dup
NM_000310.3(PPT1):c.*529_*530insAGCA rs1553166029
NM_000310.3(PPT1):c.*529_*530insATCG rs1475500814
NM_000310.3(PPT1):c.*529_*530insGTCA rs1553166030
NM_000310.3(PPT1):c.124+6T>C rs759641557
NM_000310.3(PPT1):c.147A>C (p.Leu49Phe) rs781048683
NM_000310.3(PPT1):c.175G>A (p.Glu59Lys) rs750533343
NM_000310.3(PPT1):c.175_177del (p.Glu59del) rs1553167495
NM_000310.3(PPT1):c.17G>A (p.Cys6Tyr) rs202241486
NM_000310.3(PPT1):c.234+7C>T rs200777536
NM_000310.3(PPT1):c.239T>G (p.Val80Gly)
NM_000310.3(PPT1):c.272A>C (p.Gln91Pro) rs386833639
NM_000310.3(PPT1):c.282A>G (p.Thr94=)
NM_000310.3(PPT1):c.283G>A (p.Val95Met)
NM_000310.3(PPT1):c.287G>A (p.Cys96Tyr) rs386833640
NM_000310.3(PPT1):c.310A>G (p.Lys104Glu) rs386833641
NM_000310.3(PPT1):c.329A>G (p.Asn110Ser) rs142894102
NM_000310.3(PPT1):c.362+4C>T rs534592472
NM_000310.3(PPT1):c.363G>T (p.Leu121=)
NM_000310.3(PPT1):c.38C>G (p.Ala13Gly) rs1057515557
NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) rs386833646
NM_000310.3(PPT1):c.426A>G (p.Gln142=)
NM_000310.3(PPT1):c.433+5C>A
NM_000310.3(PPT1):c.445C>A (p.Leu149Ile) rs775899980
NM_000310.3(PPT1):c.509G>A (p.Gly170Glu) rs1553167257
NM_000310.3(PPT1):c.535C>T (p.Arg179Cys) rs560471003
NM_000310.3(PPT1):c.536+5G>T rs1208757133
NM_000310.3(PPT1):c.536G>A (p.Arg179His) rs370069880
NM_000310.3(PPT1):c.572A>C (p.Lys191Thr) rs1557708208
NM_000310.3(PPT1):c.574G>A (p.Glu192Lys) rs1557708202
NM_000310.3(PPT1):c.586C>T (p.Arg196Cys) rs376715840
NM_000310.3(PPT1):c.587G>A (p.Arg196His)
NM_000310.3(PPT1):c.59C>T (p.Ala20Val) rs1187613034
NM_000310.3(PPT1):c.628G>C (p.Gly210Arg)
NM_000310.3(PPT1):c.646A>G (p.Lys216Glu) rs766163400
NM_000310.3(PPT1):c.676G>A (p.Val226Met) rs375190067
NM_000310.3(PPT1):c.71T>C (p.Leu24Pro) rs746667989
NM_000310.3(PPT1):c.722C>T (p.Ser241Leu) rs746043871
NM_000310.3(PPT1):c.769C>A (p.Pro257Thr) rs201313087
NM_000310.3(PPT1):c.802C>T (p.Arg268Cys) rs200813294
NM_000310.3(PPT1):c.817G>A (p.Glu273Lys) rs1193191643
NM_000310.3(PPT1):c.856G>A (p.Glu286Lys)
NM_000310.3(PPT1):c.875T>C (p.Leu292Ser) rs199708990
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000310.3(PPT1):c.914T>G (p.Leu305Arg) rs386833671
NM_001142604.2(PPT1):c.*521_*532dup rs1553166026

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