ClinVar Miner

List of variants reported as likely pathogenic for amyotrophic lateral sclerosis type 16 by NeuroMeGen, Hospital Clinico Santiago de Compostela

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005866.4(SIGMAR1):c.446-25_*40del rs1554707622
NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs) rs1554707680

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