ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Center for Personalized Medicine, Children's Hospital Los Angeles and "uncertain significance" from any submitter

Minimum review status of the submission from Center for Personalized Medicine, Children's Hospital Los Angeles: Collection method of the submission from Center for Personalized Medicine, Children's Hospital Los Angeles:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_001031689.3(PLAA):c.1487-1G>A rs1426488816 0.00001
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_130797.4(DPP6):c.157_184del (p.Pro53fs) rs2129062565

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