ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Autoinflammatory diseases unit, CHU de Montpellier and "pathogenic" from any submitter

Minimum review status of the submission from Autoinflammatory diseases unit, CHU de Montpellier: Collection method of the submission from Autoinflammatory diseases unit, CHU de Montpellier:
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_001197104.2(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp) rs151344528
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003091.4(SNRPB):c.155+301G>C rs786201019
NM_003482.4(KMT2D):c.6114G>A (p.Trp2038Ter) rs1592138822
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter) rs2034353033
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145

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