ClinVar Miner

List of variants in gene TSC2 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593 0.00142
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399 0.00122
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098 0.00077
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684 0.00054
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr) rs45505895 0.00018
NM_000548.5(TSC2):c.1785G>A (p.Gln595=) rs150352976 0.00002
NM_000548.5(TSC2):c.5260-12C>T rs769264472 0.00002
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700

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