ClinVar Miner

List of variants reported as uncertain significance for Tuberous sclerosis 1 by Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.-214C>T rs886063628 0.00002
NM_000368.5(TSC1):c.-144+134G>T rs375418118
NM_000368.5(TSC1):c.1628T>C (p.Leu543Pro) rs1588310271
NM_000368.5(TSC1):c.43G>A (p.Asp15Asn) rs1554821020

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