ClinVar Miner

List of variants reported for Tuberous sclerosis 2 by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.826_827del (p.Met276fs) rs137853977

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