ClinVar Miner

List of variants in gene TSC1 reported by OMIM

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Total variants: 11
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HGVS dbSNP
NM_000368.4(TSC1):c.1680_1702del (p.Ser561Argfs) rs118203557
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1888_1891delAAAG (p.Lys630Glnfs)
NM_000368.4(TSC1):c.1904_1905delCA (p.Thr635Argfs) rs118203597
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.495C>A (p.Cys165Ter) rs118203388
NM_000368.4(TSC1):c.539T>C (p.Leu180Pro) rs118203396
NM_000368.4(TSC1):c.610C>T (p.Arg204Cys) rs1060505021
NM_000368.4(TSC1):c.64C>T (p.Arg22Trp) rs749030456
NM_000368.4(TSC1):c.671T>G (p.Met224Arg) rs118203426
NM_000368.4(TSC1):c.749T>A (p.Leu250Ter) rs118203447

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