ClinVar Miner

List of variants reported as pathogenic for Tuberous sclerosis 1 by OMIM

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Total variants: 6
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HGVS dbSNP
NM_000368.4(TSC1):c.1680_1702del (p.Ser561fs) rs118203557
NM_000368.4(TSC1):c.539T>C (p.Leu180Pro) rs118203396
NM_000368.4(TSC1):c.671T>G (p.Met224Arg) rs118203426
NM_000368.4(TSC1):c.749T>A (p.Leu250Ter) rs118203447
NM_001162426.2(TSC1):c.1881_1884AAAG[1] (p.Lys629fs)
NM_001162426.2(TSC1):c.1899_1900CA[1] (p.Thr634fs) rs118203597

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