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: 16
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00024
NM_001165963.4(SCN1A):c.4582-2A>G rs2105449932
NM_001172509.2(SATB2):c.597+1G>A rs1559016679
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=) rs1227093654
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
NM_006908.5(RAC1):c.116A>G (p.Asn39Ser)
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
NM_015047.3(EMC1):c.1134C>A (p.Tyr378Ter) rs778470143
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
NM_022552.5(DNMT3A):c.1004A>G (p.Lys335Arg) rs2149307214

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