ClinVar Miner

List of variants reported as uncertain significance for Amyotrophic Lateral Sclerosis, Dominant by Illumina Laboratory Services, Illumina

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_007126.5(VCP):c.*384del rs532445930 0.00033
NM_004738.5(VAPB):c.*5826G>A rs780911883 0.00025
NM_015046.7(SETX):c.*2065dup rs886063546 0.00019
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_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.*5233_*5237del rs546553846
NM_004738.5(VAPB):c.*5511_*5513del rs556955970
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_004960.3(FUS):c.*1004dup rs886051944
NM_004960.3(FUS):c.*2393delT rs753379140
NM_004960.3(FUS):c.*2393dup rs753379140
NM_004960.3(FUS):c.*2459_*2461dup rs886051957
NM_007126.5(VCP):c.*1035dup rs532528005
NM_007126.5(VCP):c.-233GCTGCC[4] rs879074973
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.*2538del rs886045050
NM_007375.4(TARDBP):c.*2829dup rs886045051
NM_007375.4(TARDBP):c.*505del rs886045038
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.389-9del rs534931548
NM_015046.7(SETX):c.6843-6_6843-5dup rs34769225

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