ClinVar Miner

List of variants reported as pathogenic for schizophrenia by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_014712.3(SETD1A):c.757C>T (p.Arg253Ter) rs2056099559 0.00001
NC_000022.11:g.50721470dup rs1555910162
NM_017934.7(PHIP):c.4174_4175insATTTTCAGTAATTATTTTCAGTAATT (p.Ser1392delinsTyrPheGlnTer) rs2127683593

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