ClinVar Miner

List of variants reported as pathogenic 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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