ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Aleixo Muise Laboratory, Hospital For Sick Children and "likely pathogenic" from any submitter

Minimum review status of the submission from Aleixo Muise Laboratory, Hospital For Sick Children: Collection method of the submission from Aleixo Muise Laboratory, Hospital For Sick Children:
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_004174.4(SLC9A3):c.932+1G>A rs144524702 0.00002
NM_001558.4(IL10RA):c.537G>A (p.Thr179=) rs1419560997 0.00001
NM_001041.4(SI):c.834_837del (p.Gln278fs)
NM_001080467.3(MYO5B):c.947G>T (p.Gly316Val) rs971419104

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