ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Diagnostic Laboratory, Strasbourg University Hospital and "likely pathogenic" from any submitter

Minimum review status of the submission from Diagnostic Laboratory, Strasbourg University Hospital: Collection method of the submission from Diagnostic Laboratory, Strasbourg University Hospital:
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_001387263.1(PATL2):c.478C>T (p.Arg160Ter) rs548527219 0.00003
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln) rs886041300

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