ClinVar Miner

List of variants in gene TSC2 reported by Gharavi Laboratory,Columbia University

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Total variants: 10
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HGVS dbSNP
NM_000548.4(TSC2):c.4006-1_4007del rs1567520255
NM_000548.5(TSC2):c.1585G>T (p.Asp529Tyr) rs1567438280
NM_000548.5(TSC2):c.1678G>A (p.Val560Met) rs141631268
NM_000548.5(TSC2):c.1724T>C (p.Leu575Pro) rs1567456901
NM_000548.5(TSC2):c.2218A>G (p.Met740Val)
NM_000548.5(TSC2):c.2870dup (p.Leu957fs) rs1567490680
NM_000548.5(TSC2):c.3137C>T (p.Pro1046Leu) rs1567497682
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492
NM_000548.5(TSC2):c.5042A>G (p.Asn1681Ser) rs1567128450
NM_000548.5(TSC2):c.5230C>T (p.Leu1744Phe) rs1567132207

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