ClinVar Miner

List of variants in gene combination PLEKHG3, SPTB reported as uncertain significance for Familial hemolytic anemia

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001355436.2(SPTB):c.6706C>A (p.Leu2236Met)	rs1555364746
NM_001355436.2(SPTB):c.6737C>T (p.Ala2246Val)	rs1555364743

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