ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Génétique des Maladies du Développement, Hospices Civils de Lyon and "uncertain significance" 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: 8
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HGVS dbSNP
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His) rs796053157
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val) rs1553567409
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln) rs587777308
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln) rs587780586
NM_006920.6(SCN1A):c.602+1G>A rs794726827
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) rs886043455
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr) rs1424788778
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715

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