ClinVar Miner

List of variants in gene combination LOC130001681, SIGMAR1 reported as likely 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: 8
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HGVS dbSNP gnomAD frequency
NM_005866.4(SIGMAR1):c.147C>T (p.Tyr49=) rs1020552197 0.00001
NM_005866.4(SIGMAR1):c.18C>T (p.Gly6=) rs1479520771 0.00001
NM_005866.4(SIGMAR1):c.30G>T (p.Ala10=) rs1482584320
NM_005866.4(SIGMAR1):c.39G>C (p.Ala13=) rs2132330807
NM_005866.4(SIGMAR1):c.45C>G (p.Leu15=) rs2132330785
NM_005866.4(SIGMAR1):c.48G>A (p.Leu16=)
NM_005866.4(SIGMAR1):c.63G>A (p.Val21=)
NM_005866.4(SIGMAR1):c.84C>T (p.Leu28=)

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