ClinVar Miner

List of variants in gene SOD1 reported as uncertain significance for amyotrophic lateral sclerosis type 1

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000454.5(SOD1):c.*153T>G rs188029963 0.00203
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_000454.5(SOD1):c.239+6A>C rs374610141 0.00022
NM_000454.5(SOD1):c.420C>T (p.Asn140=) rs1804449 0.00005
NM_000454.5(SOD1):c.149del (p.Glu50fs) rs752237082 0.00002
NM_000454.5(SOD1):c.448A>G (p.Ile150Val) rs1169917994 0.00002
NM_000454.5(SOD1):c.457G>A (p.Ala153Thr) rs747094021 0.00002
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu) rs1030039318 0.00001
NM_000454.5(SOD1):c.328G>T (p.Asp110Tyr) rs567432143 0.00001
NM_000454.5(SOD1):c.*198G>A rs2049623017
NM_000454.5(SOD1):c.*273_*276del rs906761540
NM_000454.5(SOD1):c.106A>T (p.Ile36Phe) rs1057524474
NM_000454.5(SOD1):c.122A>G (p.Glu41Gly) rs1568809149
NM_000454.5(SOD1):c.143_148dup (p.Val48_His49dup) rs2123431926
NM_000454.5(SOD1):c.148G>A (p.Glu50Lys) rs1568809178
NM_000454.5(SOD1):c.179G>A (p.Ser60Asn)
NM_000454.5(SOD1):c.208A>G (p.Arg70Gly) rs1457291290
NM_000454.5(SOD1):c.216C>G (p.His72Gln) rs368042695
NM_000454.5(SOD1):c.220G>A (p.Gly74Arg) rs1555836720
NM_000454.5(SOD1):c.240-3T>C
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr) rs1568810660
NM_000454.5(SOD1):c.278A>T (p.Asp93Val)
NM_000454.5(SOD1):c.287C>T (p.Ala96Val) rs1568810690
NM_000454.5(SOD1):c.292G>C (p.Val98Leu)
NM_000454.5(SOD1):c.319_324del (p.Leu107_Ser108del) rs2123435528
NM_000454.5(SOD1):c.325G>C (p.Gly109Arg) rs1568810758
NM_000454.5(SOD1):c.326_328del (p.Gly109del) rs2123435554
NM_000454.5(SOD1):c.331C>T (p.His111Tyr) rs2049603707
NM_000454.5(SOD1):c.357+2dup
NM_000454.5(SOD1):c.376G>C (p.Asp126His)
NM_000454.5(SOD1):c.376G>T (p.Asp126Tyr)
NM_000454.5(SOD1):c.388G>C (p.Gly130Arg)
NM_000454.5(SOD1):c.397GAA[1] (p.Glu134del) rs1568811423
NM_000454.5(SOD1):c.401A>T (p.Glu134Val)
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile) rs1568811454
NM_000454.5(SOD1):c.416G>A (p.Gly139Glu) rs1568811464
NM_000454.5(SOD1):c.416G>T (p.Gly139Val)
NM_000454.5(SOD1):c.422C>G (p.Ala141Gly) rs1555836937
NM_000454.5(SOD1):c.440GTG[1] (p.Gly148del)
NM_000454.5(SOD1):c.455T>G (p.Ile152Ser) rs121912449
NM_000454.5(SOD1):c.75A>G (p.Glu25=) rs2049569274
NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del) rs2049569360
NM_000454.5(SOD1):c.93G>C (p.Lys31Asn) rs2123431867

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