ClinVar Miner

List of variants in gene TSC2 studied for Focal cortical dysplasia type II

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Total variants: 3
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HGVS dbSNP
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.5(TSC2):c.4639G>A (p.Val1547Ile) rs745895675
NM_000548.5(TSC2):c.5051_5068del (p.Ser1684_Asp1690delinsTyr) rs1555439825

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