ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Genetics Institute, Tel Aviv Sourasky Medical Center and "likely pathogenic" from any submitter

Minimum review status of the submission from Genetics Institute, Tel Aviv Sourasky Medical Center: Collection method of the submission from Genetics Institute, Tel Aviv Sourasky Medical Center:
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_032806.6(POMGNT2):c.1232_1233del (p.Gln411fs) rs747569790 0.00003
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_006009.4(TUBA1A):c.1105G>A (p.Ala369Thr) rs797046071
NM_006009.4(TUBA1A):c.878A>G (p.Asn293Ser) rs1942169629

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