ClinVar Miner

List of variants studied for tuberous sclerosis 2 by Suma Genomics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.2733del (p.Phe911fs) rs137854328
NM_000548.5(TSC2):c.4504del (p.Leu1502fs) rs137854160
NM_000548.5(TSC2):c.4620C>A (p.Tyr1540Ter) rs45455897

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