ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes and "likely 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: 23
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HGVS dbSNP gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000288.4(PEX7):c.854A>G (p.His285Arg) rs62653611 0.00001
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394 0.00001
NM_000287.4(PEX6):c.2406del (p.Phe802fs) rs1554126965
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000834.5(GRIN2B):c.2539C>T (p.Arg847Ter) rs879253931
NM_001080517.3(SETD5):c.2644C>T (p.Arg882Ter) rs1553635637
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter) rs1555314911
NM_001256789.3(CACNA1F):c.2038C>T (p.Arg680Ter) rs782074040
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs) rs587777523
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_002074.5(GNB1):c.274G>A (p.Ala92Thr) rs1557889974
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser) rs878853160
NM_004187.5(KDM5C):c.1243-2A>G rs1569274606
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro) rs869025340
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs) rs1301328139
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys) rs869312849
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840

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