ClinVar Miner

List of variants in gene combination PKD1, TSC2 reported as not provided by Tuberous sclerosis database (TSC2)

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.*127T>C rs34379884 0.01718
NM_000548.5(TSC2):c.*127T>G rs34379884
NM_000548.5(TSC2):c.*128G>A rs730882074
NM_000548.5(TSC2):c.*145del rs202247051
NM_000548.5(TSC2):c.*154dup rs397514891

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