ClinVar Miner

List of variants in gene TSC2 reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 10
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HGVS dbSNP
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys) rs767252128
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529
NM_000548.5(TSC2):c.299C>T (p.Ala100Val) rs375824753
NM_000548.5(TSC2):c.4260A>G (p.Ser1420=) rs1285012780
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met) rs772687631
NM_000548.5(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000548.5(TSC2):c.708C>T (p.Leu236=) rs756121647
NM_000548.5(TSC2):c.717C>G (p.Phe239Leu) rs1567408727

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