ClinVar Miner

Variants with conflicting interpretations "pathogenic" from HerediLab, Inc. and "likely pathogenic" from any submitter

Minimum review status of the submission from HerediLab, Inc.: Collection method of the submission from HerediLab, Inc.:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000295.5(SERPINA1):c.1108_1115delinsAAAAACA (p.Glu370fs) rs864622043
NM_000295.5(SERPINA1):c.538C>T (p.Gln180Ter) rs864622051
NM_000295.5(SERPINA1):c.647del rs1555368758
NM_000295.5(SERPINA1):c.866dup (p.Asn289fs) rs1555368557

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