ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes and "pathogenic" from any submitter

Minimum review status of the submission from Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes: Collection method of the submission from Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.1593dup (p.Glu532fs) rs1216139602 0.00001
NM_001042681.2(RERE):c.4305C>G (p.His1435Gln) rs751232315
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu) rs1554122947
NM_001111125.3(IQSEC2):c.2911C>T (p.Arg971Ter) rs1131691887
NM_001321075.3(DLG4):c.925C>T (p.Arg309Ter) rs1182894684
NM_001372044.2(SHANK3):c.4874_4878dup (p.Pro1627fs) rs1603447373
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs) rs1554237269
NM_003590.5(CUL3):c.1549_1552del (p.Ser517fs) rs1692335353
NM_003590.5(CUL3):c.493_494del (p.Leu165fs) rs1553523940
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs) rs1597464953
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) rs121918525

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