ClinVar Miner

List of variants reported as benign for amyotrophic lateral sclerosis by Genome-Nilou Lab

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_005866.4(SIGMAR1):c.*31A>G rs4879809 0.98825
NM_018325.5(C9orf72):c.665+115_665+117dup rs3063748 0.98615
NM_020919.4(ALS2):c.4123-64G>A rs1210940 0.97856
NM_213720.3(CHCHD10):c.261+11A>G rs131444 0.92009
NM_213720.3(CHCHD10):c.48A>C (p.Pro16=) rs179468 0.91291
NM_020919.4(ALS2):c.4627-69T>A rs3219171 0.89021
NM_020919.4(ALS2):c.4581-48T>C rs3219170 0.89015
NM_020919.4(ALS2):c.4015C>T (p.Leu1339=) rs3219168 0.89012
NM_020919.4(ALS2):c.1102G>A (p.Val368Met) rs3219156 0.86916
NM_014043.4(CHMP2B):c.312T>C (p.Thr104=) rs11540913 0.82371
NM_020919.4(ALS2):c.4004+25C>T rs3219167 0.81578
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_007126.5(VCP):c.1360-35A>G rs2258240 0.75740
NM_007126.5(VCP):c.811+3G>A rs514492 0.75591
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=) rs4935 0.62369
NM_007126.5(VCP):c.1695+8A>G rs684562 0.54947
NM_020919.4(ALS2):c.2171-62C>T rs3731703 0.54921
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=) rs4797 0.53290
NM_014845.6(FIG4):c.1948+3A>G rs10499054 0.49269
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871 0.48431
NM_020919.4(ALS2):c.2466G>A (p.Val822=) rs2276615 0.46627
NM_005235.3(ERBB4):c.1490-15T>C rs4673628 0.45282
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_015046.7(SETX):c.6655-24G>A rs11243704 0.44367
NM_013254.4(TBK1):c.978T>A (p.Ile326=) rs7486100 0.43650
NM_004738.5(VAPB):c.315+35C>T rs2234487 0.43269
NM_014845.6(FIG4):c.2559G>A (p.Ser853=) rs1127771 0.34581
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala) rs9885672 0.33924
NM_003900.5(SQSTM1):c.755-23G>A rs2241349 0.32312
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_015046.7(SETX):c.5374+16C>T rs2296872 0.24325
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
NM_014845.6(FIG4):c.1948+46C>A rs9320315 0.23093
NM_018325.5(C9orf72):c.-27G>A rs10757668 0.20162
NM_020919.4(ALS2):c.4580+7G>A rs3219169 0.17898
NM_007126.5(VCP):c.129+47G>A rs10972300 0.17835
NM_015046.7(SETX):c.7100+27A>G rs2296865 0.16223
NM_020919.4(ALS2):c.20+7T>C rs3219153 0.16113
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_015046.7(SETX):c.*2262A>G rs997784 0.09345
NM_015046.7(SETX):c.6935+8T>C rs17148873 0.09319
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_015046.7(SETX):c.6546+32T>A rs2296873 0.07069
NM_015046.7(SETX):c.498+30T>C rs11790312 0.05653
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_005022.4(PFN1):c.334C>T (p.Leu112=) rs13204 0.04611
NM_015046.7(SETX):c.*1700G>T rs75682594 0.03993
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=) rs36014111 0.03348
NM_025137.4(SPG11):c.6754+19A>G rs116635875 0.02121
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_015046.7(SETX):c.6936-27T>G rs2296866 0.02083
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=) rs35932349 0.01279
NM_025137.4(SPG11):c.1347C>T (p.Thr449=) rs3759874 0.01269
NM_015046.7(SETX):c.*351G>T rs117409290 0.01236
NM_015046.7(SETX):c.-124C>T rs114850064 0.00959
NM_015046.7(SETX):c.*319C>T rs1056912 0.00570
NM_015046.7(SETX):c.5275-43T>C rs144258500 0.00547
NM_025137.4(SPG11):c.993C>T (p.Ser331=) rs76823973 0.00519
NM_015046.7(SETX):c.*475A>C rs60760878 0.00452
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230 0.00364
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657 0.00358
NM_007375.4(TARDBP):c.198T>C (p.Ala66=) rs61730366 0.00292
NM_005235.3(ERBB4):c.1122T>G (p.His374Gln) rs76603692 0.00272
NM_015046.7(SETX):c.5781+10G>A rs537414669 0.00159
NM_004738.5(VAPB):c.390T>G (p.Asp130Glu) rs146459055 0.00059
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00053
NM_015046.7(SETX):c.5781+9T>C rs772671321 0.00003
NM_025137.4(SPG11):c.732C>T (p.Asp244=) rs745572647 0.00002
NM_005235.3(ERBB4):c.884-7del rs67894136
NM_013254.4(TBK1):c.229-4dup rs57810028
NM_014845.6(FIG4):c.446+32dup rs11459279
NM_014845.6(FIG4):c.447-3dup rs11377100
NM_015046.7(SETX):c.*431_*432del rs112251805
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015046.7(SETX):c.6843-5del rs34769225
NM_015046.7(SETX):c.7200-10dup rs531485265
NM_018325.5(C9orf72):c.600+27A>G rs2589050
NM_025137.4(SPG11):c.2445-20del rs374899647
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=) rs9153
NM_213720.3(CHCHD10):c.409+27G>C rs140182

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