ClinVar Miner

List of variants in gene TSC2 reported by New York Genome Center

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln) rs587778738 0.00002
NM_000548.5(TSC2):c.3518C>T (p.Thr1173Ile) rs2089969949 0.00001
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn) rs375883030 0.00001
NM_000548.5(TSC2):c.1257+5G>A rs2151157428
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu) rs45517352
NM_000548.5(TSC2):c.4758C>A (p.Asp1586Glu) rs1366814192
NM_000548.5(TSC2):c.4916G>A (p.Arg1639His) rs137854153
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys) rs376017665
NM_000548.5(TSC2):c.649-30A>T rs2151076571
NM_000548.5(TSC2):c.975+45C>G rs373276095

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