ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Richard Lifton Laboratory, Yale University School of Medicine and "uncertain significance" from any submitter

Minimum review status of the submission from Richard Lifton Laboratory, Yale University School of Medicine: Collection method of the submission from Richard Lifton Laboratory, Yale University School of Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_144773.4(PROKR2):c.742C>T (p.Arg248Trp) rs483352766 0.00003
NM_001081.4(CUBN):c.4268C>T (p.Thr1423Met) rs483352704 0.00001
NM_001830.4(CLCN4):c.2183C>T (p.Thr728Met) rs483352716 0.00001
NM_003705.5(SLC25A12):c.1417C>T (p.Arg473Trp) rs483352725 0.00001
NM_017433.5(MYO3A):c.2845G>T (p.Val949Phe) rs483352742 0.00001
NM_018061.4(PRPF38B):c.1463G>A (p.Arg488Gln) rs386352353 0.00001
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849

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