ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre and "likely pathogenic" from any submitter

Minimum review status of the submission from Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre: Collection method of the submission from Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre:
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_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs) rs397515540 0.00021
NM_001369.3(DNAH5):c.6763C>T (p.Arg2255Ter) rs745918507 0.00002
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535

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