ClinVar Miner

List of variants in gene TPP1 reported as uncertain significance for Neuronal Ceroid-Lipofuscinosis, Recessive

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000391.3(TPP1):c.-40T>C rs200184958 0.00053
NM_000391.4(TPP1):c.*314del rs202155605 0.00041
NM_000391.4(TPP1):c.*1412T>G rs886048535 0.00006
NM_000391.4(TPP1):c.*1715T>C rs886048533 0.00001
NM_000391.4(TPP1):c.*668C>A rs886048539 0.00001
NM_000391.3(TPP1):c.-33C>G rs757508432
NM_000391.4(TPP1):c.*1216dup rs575737269
NM_000391.4(TPP1):c.887-5del rs886048540
NM_000391.4(TPP1):c.887-6_887-5del rs886048541
NM_000391.4(TPP1):c.887-6del rs35039601

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