ClinVar Miner

List of variants in gene SIGMAR1 reported as likely benign for amyotrophic lateral sclerosis

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_005866.4(SIGMAR1):c.622C>T (p.Arg208Trp) rs11559048 0.00864
NM_005866.4(SIGMAR1):c.294C>T (p.Ala98=) rs566645946 0.00013
NM_005866.4(SIGMAR1):c.456A>G (p.Val152=) rs144813067 0.00004
NM_005866.4(SIGMAR1):c.353-13G>A rs370067220 0.00003
NM_005866.4(SIGMAR1):c.446-19G>A rs781431829 0.00003
NM_005866.4(SIGMAR1):c.339C>T (p.Ser113=) rs754738945 0.00002
NM_005866.4(SIGMAR1):c.519C>T (p.Tyr173=) rs761290005 0.00002
NM_005866.4(SIGMAR1):c.528C>T (p.Gly176=) rs762524711 0.00002
NM_005866.4(SIGMAR1):c.152-6C>T rs772336092 0.00001
NM_005866.4(SIGMAR1):c.195G>A (p.Leu65=) rs1193231930 0.00001
NM_005866.4(SIGMAR1):c.303C>T (p.Ser101=) rs59277791 0.00001
NM_005866.4(SIGMAR1):c.331T>C (p.Leu111=) rs1158511598 0.00001
NM_005866.4(SIGMAR1):c.366T>C (p.Ala122=) rs754723315 0.00001
NM_005866.4(SIGMAR1):c.445+13G>A rs1295625431 0.00001
NM_005866.4(SIGMAR1):c.453G>A (p.Thr151=) rs751571040 0.00001
NM_005866.4(SIGMAR1):c.639G>A (p.Glu213=) rs779179488 0.00001
NM_005866.4(SIGMAR1):c.151+16G>A
NM_005866.4(SIGMAR1):c.151+16G>C
NM_005866.4(SIGMAR1):c.151+19G>A
NM_005866.4(SIGMAR1):c.152-16C>T
NM_005866.4(SIGMAR1):c.152-4C>A rs1678098962
NM_005866.4(SIGMAR1):c.153G>T (p.Gly51=)
NM_005866.4(SIGMAR1):c.171C>T (p.Ala57=)
NM_005866.4(SIGMAR1):c.177T>G (p.Ser59=) rs1365967267
NM_005866.4(SIGMAR1):c.198G>C (p.Arg66=)
NM_005866.4(SIGMAR1):c.202C>T (p.Leu68=) rs2132329481
NM_005866.4(SIGMAR1):c.207C>T (p.His69=)
NM_005866.4(SIGMAR1):c.237G>T (p.Leu79=) rs555351774
NM_005866.4(SIGMAR1):c.255T>C (p.Asn85=)
NM_005866.4(SIGMAR1):c.261T>A (p.Gly87=)
NM_005866.4(SIGMAR1):c.291C>T (p.His97=)
NM_005866.4(SIGMAR1):c.297G>T (p.Ser99=)
NM_005866.4(SIGMAR1):c.300G>A (p.Leu100=) rs1554707982
NM_005866.4(SIGMAR1):c.309T>C (p.Tyr103=)
NM_005866.4(SIGMAR1):c.348C>T (p.His116=) rs978371056
NM_005866.4(SIGMAR1):c.352+10A>G rs2132328730
NM_005866.4(SIGMAR1):c.352+12C>T
NM_005866.4(SIGMAR1):c.352+16G>C
NM_005866.4(SIGMAR1):c.353-9G>C
NM_005866.4(SIGMAR1):c.369G>A (p.Glu123=) rs2132328286
NM_005866.4(SIGMAR1):c.372C>T (p.Ile124=) rs749047578
NM_005866.4(SIGMAR1):c.375G>T (p.Ser125=) rs2132328246
NM_005866.4(SIGMAR1):c.445+14C>T
NM_005866.4(SIGMAR1):c.445+17T>A
NM_005866.4(SIGMAR1):c.446-10T>C rs2132324834
NM_005866.4(SIGMAR1):c.446-16G>A
NM_005866.4(SIGMAR1):c.446-5C>G rs1564095230
NM_005866.4(SIGMAR1):c.446-7C>G
NM_005866.4(SIGMAR1):c.462C>T (p.His154=)
NM_005866.4(SIGMAR1):c.543C>T (p.Thr181=) rs1820831056
NM_005866.4(SIGMAR1):c.546G>A (p.Leu182=)
NM_005866.4(SIGMAR1):c.567T>C (p.Thr189=)
NM_005866.4(SIGMAR1):c.600C>T (p.Phe200=)
NM_005866.4(SIGMAR1):c.618T>C (p.Tyr206=)
NM_005866.4(SIGMAR1):c.627C>A (p.Gly209=) rs746866850
NM_005866.4(SIGMAR1):c.660C>T (p.Gly220=)

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