ClinVar Miner

List of variants in gene SIGMAR1 reported as benign 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: 7
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HGVS dbSNP gnomAD frequency
NM_005866.4(SIGMAR1):c.*31A>G rs4879809 0.98825
NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=) rs61739588 0.06946
NM_005866.4(SIGMAR1):c.153G>A (p.Gly51=) rs12115733 0.01994
NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp) rs11559048 0.00864
NM_005866.4(SIGMAR1):c.240G>A (p.Gln80=) rs10972178 0.00210
NM_005866.4(SIGMAR1):c.151+15G>A rs368822102 0.00083
NC_000009.12:g.34638237A>T rs148692127 0.00036

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