ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Centre for Mendelian Genomics, University Medical Centre Ljubljana and "likely pathogenic" from any submitter

Minimum review status of the submission from Centre for Mendelian Genomics, University Medical Centre Ljubljana: Collection method of the submission from Centre for Mendelian Genomics, University Medical Centre Ljubljana:
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_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679 0.00003
NM_004646.4(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863 0.00001
NM_000170.3(GLDC):c.176G>C (p.Arg59Thr) rs386833530
NM_000277.3(PAH):c.912+2T>C rs281865449

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