ClinVar Miner

List of variants studied for Amyotrophic Lateral Sclerosis, Dominant by Illumina Laboratory Services, Illumina

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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_006610.4(MASP2):c.*225T>C rs1033638 0.69325
NM_006610.4(MASP2):c.1479C>T (p.Ser493=) rs1782455 0.67756
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
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_007126.5(VCP):c.*384del rs532445930 0.00033
NM_004738.5(VAPB):c.*5826G>A rs780911883 0.00025
NM_007375.4(TARDBP):c.1098C>G (p.Ala366=) rs148325203 0.00019
NM_015046.7(SETX):c.*2065dup rs886063546 0.00019
NM_013444.4(UBQLN2):c.-163G>T rs192883799 0.00010
NM_004738.5(VAPB):c.*6257del rs750250276 0.00009
NM_004960.3(FUS):c.*614dup rs1216489571 0.00003
NM_013444.3(UBQLN2):c.-271G>C rs1057515974 0.00002
NM_004738.5(VAPB):c.*5699_*5700insA rs886056830 0.00001
NM_013444.4(UBQLN2):c.*16T>C rs1057515977 0.00001
NM_013444.4(UBQLN2):c.1170C>T (p.Pro390=) rs1057515976 0.00001
NM_013444.4(UBQLN2):c.243A>G (p.Leu81=) rs778382794 0.00001
NM_004738.4(VAPB):c.-229_-226dupGTGC rs750324709
NM_004738.5(VAPB):c.*1451GT[16] rs138225455
NM_004738.5(VAPB):c.*1451GT[17] rs138225455
NM_004738.5(VAPB):c.*1451GT[19] rs138225455
NM_004738.5(VAPB):c.*1451GT[20] rs138225455
NM_004738.5(VAPB):c.*200_*214delinsGTTGAGGGGGAAACATTAAAAG rs386815633
NM_004738.5(VAPB):c.*3428CATGTGTG[2] rs3069390
NM_004738.5(VAPB):c.*4306del rs536996969
NM_004738.5(VAPB):c.*5233_*5237del rs546553846
NM_004738.5(VAPB):c.*5511_*5513del rs556955970
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.-159_-158insC rs886056808
NM_004738.5(VAPB):c.-159_-158insCC rs886056808
NM_004738.5(VAPB):c.-198GCCCTC[3] rs765965868
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) rs566283411
NM_004960.3(FUS):c.*1004dup rs886051944
NM_004960.3(FUS):c.*1145_*1146delCA rs1211904015
NM_004960.3(FUS):c.*2393delT rs753379140
NM_004960.3(FUS):c.*2393dup rs753379140
NM_004960.3(FUS):c.*2459_*2461dup rs886051957
NM_004960.4(FUS):c.1292+22dup rs572228309
NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup) rs72550890
NM_007126.5(VCP):c.*1035dup rs532528005
NM_007126.5(VCP):c.-233GCTGCC[4] rs879074973
NM_007126.5(VCP):c.1082-18_1082-8dup rs11272867
NM_007126.5(VCP):c.1856T>C (p.Ile619Thr) rs886063891
NM_007375.4(TARDBP):c.*1597_*1600del rs748047297
NM_007375.4(TARDBP):c.*1633del rs886045043
NM_007375.4(TARDBP):c.*2294_*2295insGTTTT rs3059695
NM_007375.4(TARDBP):c.*2538del rs886045050
NM_007375.4(TARDBP):c.*2829dup rs886045051
NM_007375.4(TARDBP):c.*505del rs886045038
NM_007375.4(TARDBP):c.-12-10_-12-9del rs575825467
NM_013444.3(UBQLN2):c.-277A>C rs1057515973
NM_013444.4(UBQLN2):c.*1170dup rs1057515980
NM_013444.4(UBQLN2):c.*41G>T rs990201540
NM_013444.4(UBQLN2):c.*881A>G rs1057515979
NM_013444.4(UBQLN2):c.-55CT[5] rs1057515975
NM_014845.6(FIG4):c.*150_*151del rs886060986
NM_015046.7(SETX):c.*2576_*2577del rs886063544
NM_015046.7(SETX):c.*431_*432del rs112251805
NM_015046.7(SETX):c.389-9del rs534931548
NM_015046.7(SETX):c.6843-6_6843-5dup rs34769225

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