ClinVar Miner

List of variants reported as uncertain significance for Tuberous sclerosis 2 by Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065 0.00007
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) rs45517148 0.00003
NM_000548.5(TSC2):c.2585C>T (p.Ala862Val) rs45517249 0.00003
NM_000548.5(TSC2):c.1476G>C (p.Gln492His) rs1596311941
NM_000548.5(TSC2):c.278G>A (p.Arg93Gln) rs1222477746
NM_000548.5(TSC2):c.4069A>C (p.Ile1357Leu) rs1555513920

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