ClinVar Miner

List of variants in gene SOD1 studied for anterior horn disorder

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 164
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HGVS dbSNP gnomAD frequency
NM_000454.5(SOD1):c.73-108T>A rs16988404 0.03480
NM_000454.5(SOD1):c.170-20T>C rs17885833 0.00737
NM_000454.5(SOD1):c.*339C>T rs17880487 0.00263
NM_000454.5(SOD1):c.*2C>T rs1804447 0.00251
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.357+9T>C rs17886692 0.00051
NM_000454.5(SOD1):c.423T>A (p.Ala141=) rs143100660 0.00034
NM_000454.5(SOD1):c.195T>C (p.Phe65=) rs147620646 0.00026
NM_000454.5(SOD1):c.239+6A>C rs374610141 0.00022
NM_000454.5(SOD1):c.*317T>C rs191345676 0.00011
NM_000454.5(SOD1):c.73-4A>G rs374242306 0.00006
NM_000454.5(SOD1):c.420C>T (p.Asn140=) rs1804449 0.00005
NM_000454.5(SOD1):c.73-8T>C rs200764110 0.00005
NM_000454.5(SOD1):c.180T>C (p.Ser60=) rs373888553 0.00004
NM_000454.5(SOD1):c.149del (p.Glu50fs) rs752237082 0.00002
NM_000454.5(SOD1):c.435G>C (p.Leu145Phe) rs1482760341 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.159T>C (p.Asp53=) rs1276917683 0.00001
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu) rs1030039318 0.00001
NM_000454.5(SOD1):c.216C>T (p.His72=) rs368042695 0.00001
NM_000454.5(SOD1):c.240-16G>A rs779802862 0.00001
NM_000454.5(SOD1):c.269C>T (p.Ala90Val) rs1280042397 0.00001
NM_000454.5(SOD1):c.328G>T (p.Asp110Tyr) rs567432143 0.00001
NM_000454.5(SOD1):c.341T>C (p.Ile114Thr) rs121912441 0.00001
NM_000454.5(SOD1):c.358-10T>G rs1197141604 0.00001
NM_000454.5(SOD1):c.358-11A>G rs369600566 0.00001
NM_000454.5(SOD1):c.358G>C (p.Val120Leu) rs1457889952 0.00001
NM_000454.5(SOD1):c.449T>C (p.Ile150Thr) rs1424014997 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.112G>A (p.Gly38Arg) rs121912431
NM_000454.5(SOD1):c.112G>C (p.Gly38Arg) rs121912431
NM_000454.5(SOD1):c.115C>G (p.Leu39Val) rs121912432
NM_000454.5(SOD1):c.116T>A (p.Leu39Gln)
NM_000454.5(SOD1):c.122A>G (p.Glu41Gly) rs1568809149
NM_000454.5(SOD1):c.124G>A (p.Gly42Ser) rs121912433
NM_000454.5(SOD1):c.125G>A (p.Gly42Asp) rs121912434
NM_000454.5(SOD1):c.131A>G (p.His44Arg) rs121912435
NM_000454.5(SOD1):c.137T>G (p.Phe46Cys) rs121912457
NM_000454.5(SOD1):c.140A>G (p.His47Arg) rs121912443
NM_000454.5(SOD1):c.143T>C (p.Val48Ala) rs1568809169
NM_000454.5(SOD1):c.143_148dup (p.Val48_His49dup) rs2123431926
NM_000454.5(SOD1):c.146A>G (p.His49Arg) rs1568809172
NM_000454.5(SOD1):c.148G>A (p.Glu50Lys) rs1568809178
NM_000454.5(SOD1):c.150G>A (p.Glu50=)
NM_000454.5(SOD1):c.165A>G (p.Thr55=)
NM_000454.5(SOD1):c.169+52_169+58del rs541000032
NM_000454.5(SOD1):c.170-11C>T
NM_000454.5(SOD1):c.170-19TTC[2]
NM_000454.5(SOD1):c.179G>A (p.Ser60Asn)
NM_000454.5(SOD1):c.197A>G (p.Asn66Ser)
NM_000454.5(SOD1):c.205T>C (p.Ser69Pro) rs2049594204
NM_000454.5(SOD1):c.208A>G (p.Arg70Gly) rs1457291290
NM_000454.5(SOD1):c.214C>T (p.His72Tyr) rs2049594311
NM_000454.5(SOD1):c.216C>G (p.His72Gln) rs368042695
NM_000454.5(SOD1):c.217G>A (p.Gly73Ser) rs121912455
NM_000454.5(SOD1):c.220G>A (p.Gly74Arg) rs1555836720
NM_000454.5(SOD1):c.229G>T (p.Asp77Tyr) rs1601157750
NM_000454.5(SOD1):c.230A>T (p.Asp77Val) rs1568810316
NM_000454.5(SOD1):c.239+15A>T
NM_000454.5(SOD1):c.239+17C>G rs2123434677
NM_000454.5(SOD1):c.240-14T>C
NM_000454.5(SOD1):c.240-15C>G
NM_000454.5(SOD1):c.240-3T>C
NM_000454.5(SOD1):c.240-6T>A rs2123435321
NM_000454.5(SOD1):c.240-9_240-6del
NM_000454.5(SOD1):c.241C>T (p.His81Tyr)
NM_000454.5(SOD1):c.242A>G (p.His81Arg) rs121912458
NM_000454.5(SOD1):c.253T>G (p.Leu85Val) rs121912452
NM_000454.5(SOD1):c.255G>C (p.Leu85Phe) rs1315541036
NM_000454.5(SOD1):c.256G>A (p.Gly86Ser) rs121912436
NM_000454.5(SOD1):c.256G>C (p.Gly86Arg) rs121912436
NM_000454.5(SOD1):c.260A>G (p.Asn87Ser) rs11556620
NM_000454.5(SOD1):c.262G>A (p.Val88Met) rs1568810641
NM_000454.5(SOD1):c.263T>C (p.Val88Ala) rs1339283341
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr) rs1568810660
NM_000454.5(SOD1):c.278A>T (p.Asp93Val)
NM_000454.5(SOD1):c.280G>A (p.Gly94Ser)
NM_000454.5(SOD1):c.280G>C (p.Gly94Arg) rs121912437
NM_000454.5(SOD1):c.280G>T (p.Gly94Cys) rs121912437
NM_000454.5(SOD1):c.281G>A (p.Gly94Asp) rs121912438
NM_000454.5(SOD1):c.281G>C (p.Gly94Ala) rs121912438
NM_000454.5(SOD1):c.286G>A (p.Ala96Thr)
NM_000454.5(SOD1):c.287C>T (p.Ala96Val) rs1568810690
NM_000454.5(SOD1):c.288C>T (p.Ala96=)
NM_000454.5(SOD1):c.290A>T (p.Asp97Val) rs1555836803
NM_000454.5(SOD1):c.292G>C (p.Val98Leu)
NM_000454.5(SOD1):c.297T>C (p.Ser99=)
NM_000454.5(SOD1):c.301G>A (p.Glu101Lys) rs76731700
NM_000454.5(SOD1):c.302A>G (p.Glu101Gly) rs121912439
NM_000454.5(SOD1):c.304G>A (p.Asp102Asn)
NM_000454.5(SOD1):c.304G>C (p.Asp102His) rs1568810715
NM_000454.5(SOD1):c.317C>T (p.Ser106Leu) rs1378590183
NM_000454.5(SOD1):c.318A>T (p.Ser106=)
NM_000454.5(SOD1):c.319C>G (p.Leu107Val) rs121912440
NM_000454.5(SOD1):c.319C>T (p.Leu107Phe) rs121912440
NM_000454.5(SOD1):c.319_324del (p.Leu107_Ser108del) rs2123435528
NM_000454.5(SOD1):c.321C>T (p.Leu107=)
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.335G>A (p.Cys112Tyr)
NM_000454.5(SOD1):c.338T>C (p.Ile113Thr) rs74315452
NM_000454.5(SOD1):c.342T>G (p.Ile114Met)
NM_000454.5(SOD1):c.344G>C (p.Gly115Ala)
NM_000454.5(SOD1):c.346C>G (p.Arg116Gly) rs1301635320
NM_000454.5(SOD1):c.346C>T (p.Arg116Cys) rs1301635320
NM_000454.5(SOD1):c.347G>A (p.Arg116His)
NM_000454.5(SOD1):c.351A>C (p.Thr117=)
NM_000454.5(SOD1):c.352C>G (p.Leu118Val) rs199474723
NM_000454.5(SOD1):c.357+2dup
NM_000454.5(SOD1):c.358-17_358-15del rs774491046
NM_000454.5(SOD1):c.358-304= rs1555836889
NM_000454.5(SOD1):c.374A>G (p.Asp125Gly) rs1568811366
NM_000454.5(SOD1):c.374A>T (p.Asp125Val) rs1568811366
NM_000454.5(SOD1):c.376G>A (p.Asp126Asn) rs1568811372
NM_000454.5(SOD1):c.376G>C (p.Asp126His)
NM_000454.5(SOD1):c.376G>T (p.Asp126Tyr)
NM_000454.5(SOD1):c.377A>C (p.Asp126Ala) rs1164911383
NM_000454.5(SOD1):c.380T>A (p.Leu127Ter) rs121912454
NM_000454.5(SOD1):c.380T>C (p.Leu127Ser)
NM_000454.5(SOD1):c.387A>G (p.Lys129=)
NM_000454.5(SOD1):c.388G>C (p.Gly130Arg)
NM_000454.5(SOD1):c.396T>G (p.Asn132Lys) rs1027128618
NM_000454.5(SOD1):c.397GAA[1] (p.Glu134del) rs1568811423
NM_000454.5(SOD1):c.400G>A (p.Glu134Lys) rs2049618449
NM_000454.5(SOD1):c.401A>C (p.Glu134Ala)
NM_000454.5(SOD1):c.401A>G (p.Glu134Gly)
NM_000454.5(SOD1):c.401A>T (p.Glu134Val)
NM_000454.5(SOD1):c.404G>A (p.Ser135Asn) rs121912451
NM_000454.5(SOD1):c.408A>G (p.Thr136=)
NM_000454.5(SOD1):c.412A>G (p.Thr138Ala) rs1568811445
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile) rs1568811454
NM_000454.5(SOD1):c.414A>G (p.Thr138=)
NM_000454.5(SOD1):c.416G>A (p.Gly139Glu) rs1568811464
NM_000454.5(SOD1):c.416G>T (p.Gly139Val)
NM_000454.5(SOD1):c.420C>A (p.Asn140Lys) rs1804449
NM_000454.5(SOD1):c.422C>G (p.Ala141Gly) rs1555836937
NM_000454.5(SOD1):c.425G>C (p.Gly142Ala)
NM_000454.5(SOD1):c.425G>T (p.Gly142Val)
NM_000454.5(SOD1):c.434T>C (p.Leu145Ser) rs121912446
NM_000454.5(SOD1):c.435G>T (p.Leu145Phe) rs1482760341
NM_000454.5(SOD1):c.436G>A (p.Ala146Thr) rs121912447
NM_000454.5(SOD1):c.437C>T (p.Ala146Val) rs1131690781
NM_000454.5(SOD1):c.439T>C (p.Cys147Arg)
NM_000454.5(SOD1):c.440GTG[1] (p.Gly148del)
NM_000454.5(SOD1):c.443G>A (p.Gly148Asp) rs1555836950
NM_000454.5(SOD1):c.444T>C (p.Gly148=)
NM_000454.5(SOD1):c.445G>A (p.Val149Ile)
NM_000454.5(SOD1):c.446T>G (p.Val149Gly) rs1476760624
NM_000454.5(SOD1):c.449T>A (p.Ile150Asn) rs1424014997
NM_000454.5(SOD1):c.450T>C (p.Ile150=)
NM_000454.5(SOD1):c.450T>G (p.Ile150Met) rs2123437030
NM_000454.5(SOD1):c.455T>C (p.Ile152Thr) rs121912449
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.87A>G (p.Pro29=)
NM_000454.5(SOD1):c.93G>C (p.Lys31Asn) rs2123431867
NM_000454.5(SOD1):c.95T>C (p.Val32Ala) rs1428716759
NM_000454.5(SOD1):c.96G>A (p.Val32=)

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