ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Gene Discovery Core-Manton Center, Boston Children's Hospital and "pathogenic" from any submitter

Minimum review status of the submission from Gene Discovery Core-Manton Center, Boston Children's Hospital: Collection method of the submission from Gene Discovery Core-Manton Center, Boston Children's Hospital:
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_018122.5(DARS2):c.172C>G (p.Arg58Gly) rs375700548 0.00003
NM_001190274.2(FBXO11):c.2145G>C (p.Lys715Asn) rs1572764737
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu) rs1554389088

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