ClinVar Miner

List of variants reported as benign for amyotrophic lateral sclerosis type 4 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 58
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HGVS dbSNP gnomAD frequency
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_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
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.*562C>A rs11787894 0.16282
NM_015046.7(SETX):c.*626C>T rs11795382 0.16247
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.*1365G>T rs7875801 0.06684
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_015046.7(SETX):c.*717T>C rs17148857 0.04316
NM_015046.7(SETX):c.*1700G>T rs75682594 0.03993
NM_015046.7(SETX):c.*561A>C rs73661150 0.02138
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_015046.7(SETX):c.*1052T>A rs12349210 0.01647
NM_015046.7(SETX):c.*1288T>C rs72765812 0.01645
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_015046.7(SETX):c.*849G>T rs74975459 0.01559
NM_015046.7(SETX):c.*1224G>C rs10491906 0.01458
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_015046.7(SETX):c.*351G>T rs117409290 0.01236
NM_015046.7(SETX):c.*548A>T rs139883935 0.01078
NM_015046.7(SETX):c.-124C>T rs114850064 0.00959
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_015046.7(SETX):c.*319C>T rs1056912 0.00570
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_015046.7(SETX):c.*475A>C rs60760878 0.00452
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_015046.7(SETX):c.*168C>T rs115351494 0.00245
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu) rs113831637 0.00173
NM_015046.7(SETX):c.*2506T>C rs73545065 0.00164
NM_015046.7(SETX):c.*905A>G rs58327306 0.00164
NM_015046.7(SETX):c.-70T>C rs72765839 0.00131
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_015046.7(SETX):c.*1803G>A rs556145432 0.00046
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186 0.00037
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) rs11243731 0.00013
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) rs117229601 0.00008
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu) rs141163823 0.00007
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser) rs150421712 0.00007
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503 0.00006
NM_015046.7(SETX):c.*2232T>C rs545456048 0.00001
NM_015046.7(SETX):c.*1148T>G rs138991890
NM_015046.7(SETX):c.*1368G>A rs7025
NM_015046.7(SETX):c.*1370G>C rs116822064
NM_015046.7(SETX):c.*2190A>G rs531640605

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