ClinVar Miner

Variants with conflicting interpretations "likely benign" from Service de Génétique Moléculaire, Hôpital Robert Debré and "uncertain significance" from any submitter

Minimum review status of the submission from Service de Génétique Moléculaire, Hôpital Robert Debré: Collection method of the submission from Service de Génétique Moléculaire, Hôpital Robert Debré:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 15
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HGVS dbSNP gnomAD frequency
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu) rs79027628 0.00016
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_018249.6(CDK5RAP2):c.817G>A (p.Glu273Lys) rs772591394 0.00006
NM_144508.5(KNL1):c.1768G>T (p.Ala590Ser) rs201334214 0.00006
NM_144508.5(KNL1):c.3573A>G (p.Ile1191Met) rs200222327 0.00006
NM_206937.2(LIG4):c.2465C>T (p.Ser822Leu) rs141441003 0.00004
NM_206937.2(LIG4):c.394G>T (p.Val132Leu) rs370586288 0.00001
NM_001242896.3(DEPDC5):c.1316G>A (p.Arg439His)
NM_001242896.3(DEPDC5):c.3259C>G (p.Arg1087Gly)
NM_001356.5(DDX3X):c.596G>A (p.Arg199His)
NM_001429.4(EP300):c.4172+5del
NM_004380.3(CREBBP):c.258A>G (p.Ile86Met) rs2054819160
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)

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