ClinVar Miner

List of variants in gene TSC2 reported by MutSpliceDB: a database of splice sites variants effects on splicing, NIH

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1119+2T>C rs137854173
NM_000548.5(TSC2):c.1716+1G>T rs45517190
NM_000548.5(TSC2):c.1946+2T>C rs397515247
NM_000548.5(TSC2):c.3132-1G>C rs45443096
NM_000548.5(TSC2):c.3285-3C>G rs781023043
NM_000548.5(TSC2):c.3610+1G>C rs45517299

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