ClinVar Miner

List of variants in gene TSC1 reported by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000368.5(TSC1):c.2080C>T (p.Gln694Ter) rs397514789

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