ClinVar Miner

List of variants in gene TSC2 reported by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.3695C>T (p.Ser1232Phe) rs886039876 0.00001
NM_000548.5(TSC2):c.1565_1566del (p.His522fs) rs1555502530
NM_000548.5(TSC2):c.2355+2T>G rs45517228
NM_000548.5(TSC2):c.3352C>T (p.Gln1118Ter) rs45496291
NM_000548.5(TSC2):c.4621_4623del (p.Asp1541del) rs2090626831
NM_000548.5(TSC2):c.5155G>C (p.Ala1719Pro) rs201206500

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