ClinVar Miner

List of variants in gene TSC2 reported as not provided for Tuberous sclerosis 2

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.*26G>A rs13332015 0.03592
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205 0.00001
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395 0.00001
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.3106T>C (p.Ser1036Pro) rs45517281
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4597C>T (p.Leu1533Phe) rs1567528528
NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser) rs45503995
NM_000548.5(TSC2):c.929A>T (p.Tyr310Phe) rs878854122

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