ClinVar Miner

List of variants studied for Neuronal ceroid lipofuscinosis 1 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 61
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HGVS dbSNP
NC_000001.11:g.40097439C>T
NM_000310.3(PPT1):c.*1019C>T rs1057515445
NM_000310.3(PPT1):c.*1062G>A rs564499024
NM_000310.3(PPT1):c.*1088G>A rs1057515481
NM_000310.3(PPT1):c.*1154T>C rs562172868
NM_000310.3(PPT1):c.*1275G>A rs12061777
NM_000310.3(PPT1):c.*1295G>C rs180769534
NM_000310.3(PPT1):c.*161T>C rs11552578
NM_000310.3(PPT1):c.*252C>T rs1057515447
NM_000310.3(PPT1):c.*285T>G rs1126970
NM_000310.3(PPT1):c.*340T>G rs1012813914
NM_000310.3(PPT1):c.*388G>C rs56067238
NM_000310.3(PPT1):c.*3C>A rs150454815
NM_000310.3(PPT1):c.*456A>G rs76250039
NM_000310.3(PPT1):c.*484C>T rs570163737
NM_000310.3(PPT1):c.*505C>G rs1126972
NM_000310.3(PPT1):c.*568A>G rs541526824
NM_000310.3(PPT1):c.*583G>A rs767942985
NM_000310.3(PPT1):c.*657G>A rs1126973
NM_000310.3(PPT1):c.*679C>A rs560639610
NM_000310.3(PPT1):c.*6G>A rs113082671
NM_000310.3(PPT1):c.*709T>C rs767547423
NM_000310.3(PPT1):c.*781A>T rs1057515517
NM_000310.3(PPT1):c.*802C>T rs983979078
NM_000310.3(PPT1):c.*811A>G rs544749186
NM_000310.3(PPT1):c.*878T>C rs74638149
NM_000310.3(PPT1):c.*90C>G rs746784832
NM_000310.3(PPT1):c.*910C>T rs1057515446
NM_000310.3(PPT1):c.*969A>G rs376286074
NM_000310.3(PPT1):c.-109C>A rs41301070
NM_000310.3(PPT1):c.-158C>T rs747705034
NM_000310.3(PPT1):c.-73G>C rs559058511
NM_000310.3(PPT1):c.-83A>G rs6600313
NM_000310.3(PPT1):c.234+7C>T rs200777536
NM_000310.3(PPT1):c.234+8G>A rs746750426
NM_000310.3(PPT1):c.287G>A (p.Cys96Tyr) rs386833640
NM_000310.3(PPT1):c.367G>A (p.Ala123Thr) rs755565099
NM_000310.3(PPT1):c.38C>G (p.Ala13Gly) rs1057515557
NM_000310.3(PPT1):c.401T>C (p.Ile134Thr) rs1800205
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.537-12T>C rs1057515556
NM_000310.3(PPT1):c.676G>A (p.Val226Met) rs375190067
NM_000310.3(PPT1):c.705T>C (p.Ile235=) rs1057515448
NM_000310.3(PPT1):c.762A>C (p.Glu254Asp) rs146002450
NM_000310.3(PPT1):c.837G>C (p.Gln279His) rs72937434
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000310.4(PPT1):c.*1061C>T
NM_000310.4(PPT1):c.*127A>T
NM_000310.4(PPT1):c.*353C>T
NM_000310.4(PPT1):c.*470T>C
NM_000310.4(PPT1):c.*701G>A
NM_000310.4(PPT1):c.*708A>C
NM_000310.4(PPT1):c.*727A>C
NM_000310.4(PPT1):c.*901C>T
NM_000310.4(PPT1):c.*914A>G
NM_000310.4(PPT1):c.*991T>C
NM_000310.4(PPT1):c.-10C>T
NM_000310.4(PPT1):c.363-4G>A rs117284255
NM_000310.4(PPT1):c.416T>C (p.Val139Ala)
NM_000310.4(PPT1):c.690C>T (p.Phe230=)
NM_000310.4(PPT1):c.894T>C (p.Tyr298=)

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