ClinVar Miner

List of variants studied for amyotrophic lateral sclerosis type 16 by OMIM

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.*31A>G rs4879809 0.98825
NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln) rs387906829

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