ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes and "uncertain significance" 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: 9
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HGVS dbSNP gnomAD frequency
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys) rs367584549 0.00002
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn) rs763757370 0.00001
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val) rs1554778420
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His) rs1057521250
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu) rs1554122947
NM_001371986.1(UNC80):c.5161C>T (p.Arg1721Cys) rs1266989763
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro) rs2089686081
NM_021008.4(DEAF1):c.661T>C (p.Ser221Pro) rs1860668289
NM_173630.4(RTTN):c.4295G>A (p.Arg1432His) rs1465962355

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