ClinVar Miner

List of variants reported as pathogenic for Tuberous sclerosis 2 by Center for Human Genetics, Inc,Center for Human Genetics, Inc

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Total variants: 11
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HGVS dbSNP
NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter) rs45517158
NM_000548.5(TSC2):c.1257+1G>A rs397515066
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter) rs45517330
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs) rs137854141
NM_000548.5(TSC2):c.4989+1G>A rs45517386
NM_000548.5(TSC2):c.826_827del (p.Met276fs) rs137853977

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