ClinVar Miner

List of variants in gene TSC1 reported as likely benign for Tuberous sclerosis syndrome

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.618T>C (p.His206=) rs118203415 0.00005
NM_000368.4(TSC1):c.-242G>T rs571288003 0.00003
NM_000368.5(TSC1):c.*2228G>A rs528833042
NM_000368.5(TSC1):c.*2893del rs143549363
NM_000368.5(TSC1):c.*4631del rs60000611

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