ClinVar Miner

Variants in gene ANO10 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_018075.5(ANO10):c.337+1G>A rs765592794 0.00003
NM_018075.5(ANO10):c.1163-9A>G rs1368543726 0.00001
NM_018075.5(ANO10):c.124A>T (p.Lys42Ter) rs768831597 0.00001
NM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer) rs772345347 0.00001
NM_018075.5(ANO10):c.2T>C (p.Met1Thr) rs531656357 0.00001
NM_018075.5(ANO10):c.338-2A>G rs761765455 0.00001
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val) rs1227163239
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018075.5(ANO10):c.1760C>G (p.Ser587Ter)

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