ClinVar Miner

List of variants reported as uncertain significance for Amyotrophic lateral sclerosis type 1

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Total variants: 82
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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 0.00121
NM_021076.4(NEFH):c.2368_2370del (p.Lys790del) rs59551486 0.00092
NM_000454.5(SOD1):c.239+6A>C rs374610141 0.00019
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_000454.5(SOD1):c.420C>T (p.Asn140=) rs1804449 0.00007
NM_000454.5(SOD1):c.59A>G (p.Asn20Ser) rs768029813 0.00005
NM_000454.4(SOD1):c.-84C>G rs573544165 0.00003
NM_000454.5(SOD1):c.457G>A (p.Ala153Thr) rs747094021 0.00002
NM_000454.5(SOD1):c.149del (p.Glu50fs) rs752237082 0.00001
NM_000454.5(SOD1):c.179G>A (p.Ser60Asn) rs1413388444 0.00001
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu) rs1030039318 0.00001
NM_000454.5(SOD1):c.240-3T>C rs770227978 0.00001
NM_000454.5(SOD1):c.328G>T (p.Asp110Tyr) rs567432143 0.00001
NM_000454.5(SOD1):c.357+2dup rs747768384 0.00001
NM_000454.5(SOD1):c.66G>A (p.Glu22=) rs756458346 0.00001
NM_000454.5(SOD1):c.72+20C>T rs374484610 0.00001
NM_004082.5(DCTN1):c.2540C>G (p.Ala847Gly) rs1573152106 0.00001
NM_004082.5(DCTN1):c.638C>T (p.Pro213Leu) rs754827026 0.00001
NC_000021.8:g.(?_32439271)_(39212984_?)dup
NM_000454.4(SOD1):c.-87G>A rs139202139
NM_000454.4(SOD1):c.-87G>C rs139202139
NM_000454.4(SOD1):c.-91C>G rs568985632
NM_000454.5(SOD1):c.*198G>A rs2049623017
NM_000454.5(SOD1):c.*273_*276del rs906761540
NM_000454.5(SOD1):c.-55C>G rs16988395
NM_000454.5(SOD1):c.-55C>T rs16988395
NM_000454.5(SOD1):c.-56T>A rs535066119
NM_000454.5(SOD1):c.106A>T (p.Ile36Phe) rs1057524474
NM_000454.5(SOD1):c.107T>C (p.Ile36Thr)
NM_000454.5(SOD1):c.122A>G (p.Glu41Gly) rs1568809149
NM_000454.5(SOD1):c.142G>A (p.Val48Ile)
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.15_17delinsAAA (p.Val6Lys)
NM_000454.5(SOD1):c.164C>T (p.Thr55Ile)
NM_000454.5(SOD1):c.17T>C (p.Val6Ala) rs2123427988
NM_000454.5(SOD1):c.208A>G (p.Arg70Gly) rs1457291290
NM_000454.5(SOD1):c.20G>A (p.Cys7Tyr)
NM_000454.5(SOD1):c.216C>G (p.His72Gln) rs368042695
NM_000454.5(SOD1):c.217G>T (p.Gly73Cys)
NM_000454.5(SOD1):c.220G>A (p.Gly74Arg) rs1555836720
NM_000454.5(SOD1):c.240-4_251del
NM_000454.5(SOD1):c.245T>A (p.Val82Asp)
NM_000454.5(SOD1):c.250G>A (p.Asp84Asn)
NM_000454.5(SOD1):c.25C>G (p.Leu9Val) rs1568807333
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr) rs1568810660
NM_000454.5(SOD1):c.26T>A (p.Leu9Gln) rs1568807342
NM_000454.5(SOD1):c.278A>T (p.Asp93Val) rs774994509
NM_000454.5(SOD1):c.284T>C (p.Val95Ala)
NM_000454.5(SOD1):c.287C>T (p.Ala96Val) rs1568810690
NM_000454.5(SOD1):c.292G>C (p.Val98Leu) rs1555836806
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.376G>C (p.Asp126His) rs1568811372
NM_000454.5(SOD1):c.376G>T (p.Asp126Tyr) rs1568811372
NM_000454.5(SOD1):c.37G>A (p.Gly13Ser)
NM_000454.5(SOD1):c.388G>C (p.Gly130Arg) rs1464048449
NM_000454.5(SOD1):c.397GAA[1] (p.Glu134del) rs1568811423
NM_000454.5(SOD1):c.401A>T (p.Glu134Val) rs1568811426
NM_000454.5(SOD1):c.40C>T (p.Pro14Ser)
NM_000454.5(SOD1):c.416G>A (p.Gly139Glu) rs1568811464
NM_000454.5(SOD1):c.416G>T (p.Gly139Val) rs1568811464
NM_000454.5(SOD1):c.422C>G (p.Ala141Gly) rs1555836937
NM_000454.5(SOD1):c.440GTG[1] (p.Gly148del) rs2049619398
NM_000454.5(SOD1):c.448A>G (p.Ile150Val) rs1169917994
NM_000454.5(SOD1):c.455T>G (p.Ile152Ser) rs121912449
NM_000454.5(SOD1):c.53TCA[1] (p.Ile19del)
NM_000454.5(SOD1):c.55A>T (p.Ile19Phe) rs2516654131
NM_000454.5(SOD1):c.56T>C (p.Ile19Thr) rs1601153438
NM_000454.5(SOD1):c.59A>T (p.Asn20Ile) rs768029813
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
NM_004082.5(DCTN1):c.1732G>A (p.Val578Met) rs1674617834
NM_006262.4(PRPH):c.1264A>G (p.Thr422Ala)
NM_006262.4(PRPH):c.364A>G (p.Asn122Asp)
NM_006262.4(PRPH):c.602G>A (p.Arg201His)
NM_006262.4(PRPH):c.695A>G (p.His232Arg)
NM_021076.4(NEFH):c.1376_1379del (p.Glu459fs) rs1404118739

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