ClinVar Miner

List of variants reported as likely benign for Amyotrophic Lateral Sclerosis, Dominant

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03269
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_007375.4(TARDBP):c.*208G>A rs148414479 0.02507
NM_007375.4(TARDBP):c.*2331A>G rs114897688 0.02160
NM_013444.4(UBQLN2):c.*1258C>T rs41306757 0.01401
NM_006610.4(MASP2):c.1617T>C (p.Asn539=) rs72550845 0.01301
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_000454.4(SOD1):c.-156G>C rs17878855 0.00768
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=) rs45559331 0.00516
NM_006610.4(MASP2):c.*184C>T rs115750484 0.00452
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=) rs142250604 0.00313
NM_004629.2(FANCG):c.640C>T (p.Arg214Cys) rs61757385 0.00285
NM_007126.5(VCP):c.-267C>T rs184152880 0.00252
NM_004629.2(FANCG):c.1638T>C (p.Gly546=) rs45537335 0.00175
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) rs148325203 0.00019
NM_013444.4(UBQLN2):c.-163G>T rs192883799 0.00010
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=) rs778382794 0.00001
NM_004738.5(VAPB):c.*4306del rs536996969
NM_004738.5(VAPB):c.*6117CTGT[1] rs143261907
NM_004738.5(VAPB):c.*6460GT[3] rs562701720
NM_004738.5(VAPB):c.*6684ATG[1] rs574681539
NM_004738.5(VAPB):c.-149dup rs546898989
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) rs566283411
NM_004960.3(FUS):c.*1145_*1146delCA rs1211904015
NM_004960.4(FUS):c.1292+22dup rs572228309
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup) rs72550890
NM_007375.4(TARDBP):c.-12-10_-12-9del rs575825467
NM_015046.7(SETX):c.*431_*432del rs112251805

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