ClinVar Miner

List of variants reported as uncertain significance for amyotrophic lateral sclerosis type 16 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NC_000009.11:g.(?_34458984)_(36277059_?)dup
NM_005866.3(SIGMAR1):c.11C>T (p.Ala4Val) rs367968662
NM_005866.3(SIGMAR1):c.13delG (p.Val5Trpfs)
NM_005866.3(SIGMAR1):c.194T>A (p.Leu65Gln)
NM_005866.3(SIGMAR1):c.247T>C (p.Phe83Leu)
NM_005866.3(SIGMAR1):c.298C>G (p.Leu100Val)
NM_005866.3(SIGMAR1):c.344G>T (p.Gly115Val) rs1241574813
NM_005866.3(SIGMAR1):c.446-5C>G
NM_005866.3(SIGMAR1):c.463G>A (p.Gly155Arg) rs200076129
NM_005866.3(SIGMAR1):c.545T>C (p.Leu182Pro) rs781091660
NM_005866.3(SIGMAR1):c.61G>C (p.Val21Leu)
NM_005866.3(SIGMAR1):c.623G>A (p.Arg208Gln)
NM_005866.3(SIGMAR1):c.632G>A (p.Arg211Gln)
NM_005866.3(SIGMAR1):c.79T>A (p.Trp27Arg)
NM_005866.3(SIGMAR1):c.92G>A (p.Gly31Asp) rs532632647

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