ClinVar Miner

List of variants reported as uncertain significance for Neuronal ceroid lipofuscinosis 1 by Illumina Laboratory Services, Illumina

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000310.4(PPT1):c.*708A>C rs368715899 0.00355
NM_000310.4(PPT1):c.*679C>A rs560639610 0.00301
NM_000310.4(PPT1):c.*484C>T rs570163737 0.00155
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000310.4(PPT1):c.*914A>G rs1005345754 0.00070
NM_000310.4(PPT1):c.*583G>A rs767942985 0.00064
NM_000310.4(PPT1):c.*388G>C rs56067238 0.00061
NM_000310.4(PPT1):c.*1295G>C rs180769534 0.00058
NM_000310.4(PPT1):c.*568A>G rs541526824 0.00052
NM_000310.3(PPT1):c.-158C>T rs747705034 0.00037
NM_000310.4(PPT1):c.*1019C>T rs1057515445 0.00012
NM_000310.4(PPT1):c.*470T>C rs979602950 0.00008
NM_000310.4(PPT1):c.*811A>G rs544749186 0.00007
NM_000310.4(PPT1):c.*340T>G rs1012813914 0.00006
NM_000310.4(PPT1):c.*6G>A rs113082671 0.00006
NM_000310.4(PPT1):c.*781A>T rs1057515517 0.00006
NM_000310.4(PPT1):c.*802C>T rs983979078 0.00006
NM_000310.4(PPT1):c.*701G>A rs997860980 0.00005
NM_000310.4(PPT1):c.*727A>C rs764870558 0.00005
NM_000310.4(PPT1):c.*991T>C rs149722250 0.00004
NM_000310.4(PPT1):c.234+7C>T rs200777536 0.00004
NM_000310.4(PPT1):c.-10C>T rs761610817 0.00003
NM_000310.4(PPT1):c.676G>A (p.Val226Met) rs375190067 0.00003
NM_000310.4(PPT1):c.762A>C (p.Glu254Asp) rs146002450 0.00003
NM_000310.4(PPT1):c.*910C>T rs1057515446 0.00002
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr) rs386833640 0.00002
NM_000310.4(PPT1):c.416T>C (p.Val139Ala) rs766961054 0.00002
NM_000310.4(PPT1):c.537-12T>C rs1057515556 0.00002
NM_000310.4(PPT1):c.*1062G>A rs564499024 0.00001
NM_000310.4(PPT1):c.*353C>T rs1016587844 0.00001
NM_000310.4(PPT1):c.*90C>G rs746784832 0.00001
NM_000310.4(PPT1):c.367G>A (p.Ala123Thr) rs755565099 0.00001
NM_000310.4(PPT1):c.38C>G (p.Ala13Gly) rs1057515557 0.00001
NM_000310.3(PPT1):c.-73G>C rs559058511
NM_000310.4(PPT1):c.*1088G>A rs1057515481
NM_000310.4(PPT1):c.*127A>T rs780010424
NM_000310.4(PPT1):c.*252C>T rs1057515447
NM_000310.4(PPT1):c.*709T>C rs767547423
NM_000310.4(PPT1):c.*969A>G rs376286074
NM_000310.4(PPT1):c.234+8G>A rs746750426
NM_000310.4(PPT1):c.690C>T (p.Phe230=) rs1648754113
NM_000310.4(PPT1):c.705T>C (p.Ile235=) rs1057515448
NM_000310.4(PPT1):c.894T>C (p.Tyr298=) rs781759073

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