ClinVar Miner

List of variants studied for ataxia-telangiectasia-like disorder by Consultorio y Laboratorio de Neurogenética, Hospital JM Ramos Mejia

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del) rs774123592
NM_015046.7(SETX):c.1856_1863del (p.Ser618_Tyr619insTer) rs1847100683
NM_015046.7(SETX):c.7154T>G (p.Val2385Gly) rs1842914440

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