ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Génétique des Maladies du Développement, Hospices Civils de Lyon and "pathogenic" from any submitter

Minimum review status of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon: Collection method of the submission from Génétique des Maladies du Développement, Hospices Civils de Lyon:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP
NM_001172509.2(SATB2):c.597+1G>A rs1559016679
NM_003688.3(CASK):c.2129A>G (p.Asp710Gly) rs137852818
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His) rs749205120
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys) rs886039396
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_007327.4(GRIN1):c.679G>C (p.Asp227His) rs869312865
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys) rs1565909334
NM_022455.4(NSD1):c.4378+1G>A rs587784115
NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp) rs137852727
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp) rs1555873985

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