ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine and "uncertain significance" from any submitter

Minimum review status of the submission from Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine: Collection method of the submission from Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) rs569997475 0.00006
NM_001029896.2(WDR45):c.827+2dup rs1602537729
NM_001375524.1(TRRAP):c.5596C>T (p.Arg1866Cys) rs1791432323
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006236.3(POU3F3):c.1303_1305del (p.Glu435del)
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_007327.4(GRIN1):c.2500G>C (p.Glu834Gln) rs1588735834
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu) rs1590017652
NM_078480.3(PUF60):c.1673_1674del (p.Ser558fs) rs1816304706

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