ClinVar Miner

List of variants reported as uncertain significance for Neuronal ceroid lipofuscinosis 1 by Counsyl

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Total variants: 9
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HGVS dbSNP
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.272A>C (p.Gln91Pro) rs386833639
NM_000310.3(PPT1):c.287G>A (p.Cys96Tyr) rs386833640
NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) rs386833646
NM_000310.3(PPT1):c.722C>T (p.Ser241Leu) rs746043871
NM_001142604.2(PPT1):c.*521_*532dup rs1553166026
NM_001142604.2(PPT1):c.125-2945_125-2943del rs1553167495

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