ClinVar Miner

Variants in gene TSC2 with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) rs397515206
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000548.5(TSC2):c.1599+5G>A rs397515100
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2197C>G (p.Leu733Val) rs397515163
NM_000548.5(TSC2):c.656T>C (p.Leu219Pro) rs397515249
Single allele

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