ClinVar Miner

List of variants reported as likely pathogenic for Tuberous sclerosis syndrome by All of Us Research Program, National Institutes of Health

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)	rs45517395	0.00001
NM_000368.5(TSC1):c.2497C>T (p.Gln833Ter)	rs118203700
NM_000548.5(TSC2):c.3132-1G>C	rs45443096

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