ClinVar Miner

List of variants in gene TSC2 reported as pathogenic for Lymphangiomyomatosis; Focal cortical dysplasia type II; Tuberous sclerosis 2

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Total variants: 7
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HGVS dbSNP
NC_000016.10:g.2064286delC
NM_000548.3(TSC2):c.1831C>T (p.Arg611Trp) rs45469298
NM_000548.3(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.3(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.4(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.4(TSC2):c.5138G>A (p.Arg1713His) rs45517395
NM_000548.4(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412

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