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: 32
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HGVS dbSNP
NC_000009.11:g.(?_34458984)_(36277059_?)dup
NM_005866.4(SIGMAR1):c.*51G>T rs768783740
NM_005866.4(SIGMAR1):c.11C>T (p.Ala4Val) rs367968662
NM_005866.4(SIGMAR1):c.140G>C (p.Arg47Pro) rs779459049
NM_005866.4(SIGMAR1):c.170C>G (p.Ala57Gly)
NM_005866.4(SIGMAR1):c.208C>T (p.Pro70Ser)
NM_005866.4(SIGMAR1):c.247T>C (p.Phe83Leu) rs773344340
NM_005866.4(SIGMAR1):c.250G>C (p.Val84Leu)
NM_005866.4(SIGMAR1):c.254A>G (p.Asn85Ser)
NM_005866.4(SIGMAR1):c.259G>A (p.Gly87Ser) rs768933234
NM_005866.4(SIGMAR1):c.259G>C (p.Gly87Arg)
NM_005866.4(SIGMAR1):c.279G>A (p.Met93Ile)
NM_005866.4(SIGMAR1):c.298C>G (p.Leu100Val) rs1278952640
NM_005866.4(SIGMAR1):c.344G>T (p.Gly115Val) rs1241574813
NM_005866.4(SIGMAR1):c.359A>G (p.Tyr120Cys)
NM_005866.4(SIGMAR1):c.446-5C>G rs1564095230
NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg) rs200076129
NM_005866.4(SIGMAR1):c.463G>T (p.Gly155Trp)
NM_005866.4(SIGMAR1):c.476C>T (p.Ala159Val)
NM_005866.4(SIGMAR1):c.529G>A (p.Val177Ile) rs149409262
NM_005866.4(SIGMAR1):c.545T>C (p.Leu182Pro) rs781091660
NM_005866.4(SIGMAR1):c.553G>A (p.Ala185Thr)
NM_005866.4(SIGMAR1):c.595C>T (p.Leu199Phe) rs146118253
NM_005866.4(SIGMAR1):c.59C>A (p.Ala20Glu)
NM_005866.4(SIGMAR1):c.614C>T (p.Ser205Phe)
NM_005866.4(SIGMAR1):c.61G>C (p.Val21Leu) rs1396152845
NM_005866.4(SIGMAR1):c.623G>A (p.Arg208Gln) rs541996857
NM_005866.4(SIGMAR1):c.632G>A (p.Arg211Gln) rs192644838
NM_005866.4(SIGMAR1):c.652C>T (p.Leu218Phe)
NM_005866.4(SIGMAR1):c.79T>A (p.Trp27Arg) rs1564096623
NM_005866.4(SIGMAR1):c.92G>A (p.Gly31Asp) rs532632647
NM_005866.4(SIGMAR1):c.98A>C (p.Gln33Pro)

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