ClinVar Miner

List of variants in gene SIGMAR1 reported as uncertain significance for autosomal recessive distal spinal muscular atrophy 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_005866.4(SIGMAR1):c.510G>A (p.Met170Ile) rs1336386973 0.00012
NM_005866.4(SIGMAR1):c.254A>G (p.Asn85Ser) rs372751122 0.00008
NM_005866.4(SIGMAR1):c.595C>T (p.Leu199Phe) rs146118253 0.00004
NM_005866.4(SIGMAR1):c.554C>T (p.Ala185Val) rs372101503 0.00003
NM_005866.4(SIGMAR1):c.631C>T (p.Arg211Trp) rs777843655 0.00003
NM_005866.4(SIGMAR1):c.209C>G (p.Pro70Arg) rs990147591 0.00002
NM_005866.4(SIGMAR1):c.523C>T (p.Arg175Trp) rs780073328 0.00002
NM_005866.4(SIGMAR1):c.632G>A (p.Arg211Gln) rs192644838 0.00002
NM_005866.4(SIGMAR1):c.*51G>T rs768783740 0.00001
NM_005866.4(SIGMAR1):c.208C>T (p.Pro70Ser) rs777565671 0.00001
NM_005866.4(SIGMAR1):c.247T>C (p.Phe83Leu) rs773344340 0.00001
NM_005866.4(SIGMAR1):c.298C>G (p.Leu100Val) rs1278952640 0.00001
NM_005866.4(SIGMAR1):c.344G>T (p.Gly115Val) rs1241574813 0.00001
NM_005866.4(SIGMAR1):c.359A>G (p.Tyr120Cys) rs778413865 0.00001
NM_005866.4(SIGMAR1):c.452C>T (p.Thr151Met) rs745503254 0.00001
NM_005866.4(SIGMAR1):c.476C>T (p.Ala159Val) rs202244713 0.00001
NM_005866.4(SIGMAR1):c.496C>T (p.Pro166Ser) rs1411120179 0.00001
NM_005866.4(SIGMAR1):c.529G>A (p.Val177Ile) rs149409262 0.00001
NM_005866.4(SIGMAR1):c.545T>C (p.Leu182Pro) rs781091660 0.00001
NM_005866.4(SIGMAR1):c.575G>A (p.Ser192Asn) rs892812356 0.00001
NM_005866.4(SIGMAR1):c.623G>A (p.Arg208Gln) rs541996857 0.00001
NM_005866.4(SIGMAR1):c.652C>T (p.Leu218Phe) rs754118993 0.00001
NM_005866.4(SIGMAR1):c.152G>A (p.Gly51Glu) rs2132329730
NM_005866.4(SIGMAR1):c.170C>G (p.Ala57Gly) rs1382890194
NM_005866.4(SIGMAR1):c.173_175del (p.Phe58del)
NM_005866.4(SIGMAR1):c.212G>C (p.Gly71Ala)
NM_005866.4(SIGMAR1):c.218T>C (p.Val73Ala)
NM_005866.4(SIGMAR1):c.250G>C (p.Val84Leu) rs1820911034
NM_005866.4(SIGMAR1):c.259G>A (p.Gly87Ser) rs768933234
NM_005866.4(SIGMAR1):c.259G>C (p.Gly87Arg) rs768933234
NM_005866.4(SIGMAR1):c.279G>A (p.Met93Ile) rs1820909011
NM_005866.4(SIGMAR1):c.292G>T (p.Ala98Ser)
NM_005866.4(SIGMAR1):c.308A>G (p.Tyr103Cys)
NM_005866.4(SIGMAR1):c.311T>C (p.Val104Ala)
NM_005866.4(SIGMAR1):c.338C>G (p.Ser113Cys) rs1234992727
NM_005866.4(SIGMAR1):c.351G>T (p.Ser117=)
NM_005866.4(SIGMAR1):c.356G>A (p.Arg119His)
NM_005866.4(SIGMAR1):c.391G>A (p.Gly131Ser)
NM_005866.4(SIGMAR1):c.446G>A (p.Gly149Glu)
NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg) rs200076129
NM_005866.4(SIGMAR1):c.463G>T (p.Gly155Trp) rs200076129
NM_005866.4(SIGMAR1):c.470G>C (p.Gly157Ala) rs2132324643
NM_005866.4(SIGMAR1):c.482C>A (p.Ala161Asp) rs1820834441
NM_005866.4(SIGMAR1):c.511G>T (p.Val171Leu) rs1820832825
NM_005866.4(SIGMAR1):c.524G>A (p.Arg175Gln)
NM_005866.4(SIGMAR1):c.530T>C (p.Val177Ala)
NM_005866.4(SIGMAR1):c.550_561del (p.Phe184_Ala187del) rs2132324233
NM_005866.4(SIGMAR1):c.553G>A (p.Ala185Thr) rs777650644
NM_005866.4(SIGMAR1):c.553G>C (p.Ala185Pro) rs777650644
NM_005866.4(SIGMAR1):c.561_576del (p.Asp188fs) rs1554707680
NM_005866.4(SIGMAR1):c.562G>A (p.Asp188Asn)
NM_005866.4(SIGMAR1):c.571T>C (p.Phe191Leu)
NM_005866.4(SIGMAR1):c.614C>T (p.Ser205Phe) rs1820825348
NM_005866.4(SIGMAR1):c.623G>C (p.Arg208Pro)
NM_005866.4(SIGMAR1):c.656_657del (p.Phe219fs) rs752243393

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