ClinVar Miner

List of variants reported as uncertain significance for DNA repair disease by Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del) rs774123592
NM_015046.7(SETX):c.7154T>G (p.Val2385Gly) rs1842914440

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