ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln) rs140376902 0.00004
NM_005866.4(SIGMAR1):c.152-2A>T rs2132329744
NM_005866.4(SIGMAR1):c.446-25_*40del rs1554707622
NM_005866.4(SIGMAR1):c.448G>A (p.Glu150Lys) rs757260058
NM_005866.4(SIGMAR1):c.451A>G (p.Thr151Ala) rs1820836522
NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs) rs1554707680
NM_005866.4(SIGMAR1):c.637G>A (p.Glu213Lys) rs2132323906

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