ClinVar Miner

List of variants in gene combination LOC130058210, TSC2 reported as uncertain significance for Tuberous sclerosis syndrome

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.-34G>A rs559641280 0.00004
NM_000548.5(TSC2):c.-30+1G>T rs587778004
NM_000548.5(TSC2):c.-30_-30+11del
NM_000548.5(TSC2):c.-33_-30+10del

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