ClinVar Miner

List of variants reported as likely pathogenic for Tuberous sclerosis 2 by Myriad Genetics, Inc.

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395 0.00001
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.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4569+2T>C rs1555514984
NM_000548.5(TSC2):c.5417_5418del (p.Phe1806fs) rs2544521795

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