ClinVar Miner

List of variants in gene SIGMAR1 reported as likely pathogenic for amyotrophic lateral sclerosis type 16

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_005866.4(SIGMAR1):c.416G>T (p.Gly139Val) rs1270528470
NM_005866.4(SIGMAR1):c.446-25_*40del rs1554707622
NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs) rs1554707680

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