ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Rare Disease Group, Clinical Genetics, Karolinska Institutet and "uncertain significance" from any submitter

Minimum review status of the submission from Rare Disease Group, Clinical Genetics, Karolinska Institutet: Collection method of the submission from Rare Disease Group, Clinical Genetics, Karolinska Institutet:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501 0.00043
NM_000977.4(RPL13):c.548G>A (p.Arg183His) rs1597676540
Single allele

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