ClinVar Miner

List of variants in gene VAPB reported as uncertain significance for amyotrophic lateral sclerosis

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 186
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HGVS dbSNP gnomAD frequency
NM_004738.5(VAPB):c.*5095T>G rs143424619 0.00210
NM_004738.5(VAPB):c.*4327A>G rs183197400 0.00208
NM_004738.5(VAPB):c.*2850T>C rs777977641 0.00064
NM_004738.5(VAPB):c.*1050G>A rs551974797 0.00041
NM_004738.5(VAPB):c.*4862A>G rs143395644 0.00040
NM_004738.5(VAPB):c.*3001T>G rs551260354 0.00036
NM_004738.5(VAPB):c.*3315A>G rs772298515 0.00027
NM_004738.5(VAPB):c.*5769G>A rs150490845 0.00026
NM_004738.5(VAPB):c.*5283C>T rs747799775 0.00024
NM_004738.5(VAPB):c.*1800A>G rs564187580 0.00022
NM_004738.5(VAPB):c.*6404C>T rs774485714 0.00022
NM_004738.5(VAPB):c.*3643G>C rs554314719 0.00021
NM_004738.5(VAPB):c.*2012G>A rs1000867664 0.00020
NM_004738.5(VAPB):c.574-4G>A rs201798741 0.00016
NM_004738.5(VAPB):c.*3738A>C rs766693591 0.00015
NM_004738.5(VAPB):c.*3192T>C rs545089397 0.00014
NM_004738.5(VAPB):c.*2748A>C rs368079533 0.00011
NM_004738.5(VAPB):c.*4394C>T rs1042545830 0.00009
NM_004738.5(VAPB):c.*5771T>G rs746524529 0.00009
NM_004738.5(VAPB):c.667C>T (p.Arg223Trp) rs144718603 0.00009
NM_004738.5(VAPB):c.*348C>T rs182950622 0.00006
NM_004738.5(VAPB):c.*480T>C rs1037475892 0.00006
NM_004738.5(VAPB):c.*774G>A rs138920779 0.00006
NM_004738.5(VAPB):c.*382G>A rs968333452 0.00005
NM_004738.5(VAPB):c.289A>G (p.Thr97Ala) rs752091117 0.00005
NM_004738.5(VAPB):c.*2733G>A rs533186435 0.00004
NM_004738.5(VAPB):c.*3305C>G rs747662615 0.00004
NM_004738.5(VAPB):c.*5145T>C rs79674150 0.00004
NM_004738.5(VAPB):c.*5453C>T rs1268822756 0.00004
NM_004738.5(VAPB):c.*6087A>G rs1429161682 0.00004
NM_004738.5(VAPB):c.502A>G (p.Lys168Glu) rs774643393 0.00004
NM_004738.5(VAPB):c.58+5G>A rs753611165 0.00004
NM_004738.5(VAPB):c.*1295T>C rs754082863 0.00003
NM_004738.5(VAPB):c.*3701C>T rs372302350 0.00003
NM_004738.5(VAPB):c.*5352C>T rs886056828 0.00003
NM_004738.5(VAPB):c.*624C>T rs551924874 0.00003
NM_004738.5(VAPB):c.104C>T (p.Pro35Leu) rs1456089445 0.00003
NM_004738.5(VAPB):c.550C>T (p.Arg184Trp) rs750394268 0.00003
NM_004738.5(VAPB):c.618C>T (p.Ser206=) rs747208140 0.00003
NM_004738.5(VAPB):c.*1563G>C rs1049373137 0.00002
NM_004738.5(VAPB):c.*172A>C rs757709521 0.00002
NM_004738.5(VAPB):c.*3134G>T rs886056818 0.00002
NM_004738.5(VAPB):c.*3493G>A rs764048379 0.00002
NM_004738.5(VAPB):c.*436C>T rs966052820 0.00002
NM_004738.5(VAPB):c.*5832G>A rs886056833 0.00002
NM_004738.5(VAPB):c.199A>G (p.Ile67Val) rs772975721 0.00002
NM_004738.5(VAPB):c.*1022C>A rs1403046933 0.00001
NM_004738.5(VAPB):c.*1168G>A rs570596321 0.00001
NM_004738.5(VAPB):c.*1951A>G rs1233509892 0.00001
NM_004738.5(VAPB):c.*3027A>G rs140832542 0.00001
NM_004738.5(VAPB):c.*3628A>G rs886056821 0.00001
NM_004738.5(VAPB):c.*3942C>T rs886056823 0.00001
NM_004738.5(VAPB):c.*4023A>G rs1345404183 0.00001
NM_004738.5(VAPB):c.*4929C>T rs761438209 0.00001
NM_004738.5(VAPB):c.*574G>A rs1203824252 0.00001
NM_004738.5(VAPB):c.*602G>A rs536862661 0.00001
NM_004738.5(VAPB):c.*6238T>C rs886056835 0.00001
NM_004738.5(VAPB):c.*6354G>A rs886056836 0.00001
NM_004738.5(VAPB):c.*6462G>T rs761969079 0.00001
NM_004738.5(VAPB):c.*6746C>T rs886056839 0.00001
NM_004738.5(VAPB):c.*6842A>G rs886056840 0.00001
NM_004738.5(VAPB):c.*861T>C rs779052440 0.00001
NM_004738.5(VAPB):c.-12C>T rs886056810 0.00001
NM_004738.5(VAPB):c.14A>G (p.Glu5Gly) rs748371538 0.00001
NM_004738.5(VAPB):c.233A>G (p.Tyr78Cys) rs1475473253 0.00001
NM_004738.5(VAPB):c.315A>G (p.Val105=) rs757744162 0.00001
NM_004738.5(VAPB):c.332C>T (p.Pro111Leu) rs777316448 0.00001
NM_004738.5(VAPB):c.472A>C (p.Ser158Arg) rs773800478 0.00001
NM_004738.5(VAPB):c.493G>A (p.Glu165Lys) rs772254840 0.00001
NM_004738.5(VAPB):c.535G>A (p.Glu179Lys) rs1989149258 0.00001
NM_004738.5(VAPB):c.622A>G (p.Ile208Val) rs376121617 0.00001
NM_004738.5(VAPB):c.655G>C (p.Gly219Arg) rs1989222522 0.00001
NC_000020.10:g.(?_57009638)_(57019291_?)dup
NC_000020.11:g.(?_58389109)_(58389527_?)del
NM_004738.5(VAPB):c.*1431G>T rs886056813
NM_004738.5(VAPB):c.*1905C>T rs1989287889
NM_004738.5(VAPB):c.*1919A>G rs886056816
NM_004738.5(VAPB):c.*2350A>G rs1989298509
NM_004738.5(VAPB):c.*2571G>A rs1989303521
NM_004738.5(VAPB):c.*2676A>G rs886056817
NM_004738.5(VAPB):c.*2876A>G rs1989311671
NM_004738.5(VAPB):c.*3014C>T rs1269284815
NM_004738.5(VAPB):c.*3118C>A rs56310716
NM_004738.5(VAPB):c.*3260C>T rs886056819
NM_004738.5(VAPB):c.*3516C>G rs886056820
NM_004738.5(VAPB):c.*3870G>C rs886056822
NM_004738.5(VAPB):c.*4206G>A rs886056824
NM_004738.5(VAPB):c.*4374A>C rs1989355496
NM_004738.5(VAPB):c.*4418C>T rs774417253
NM_004738.5(VAPB):c.*4637G>T rs1313089832
NM_004738.5(VAPB):c.*5114G>A rs886056826
NM_004738.5(VAPB):c.*5500A>G rs1989390124
NM_004738.5(VAPB):c.*5616T>C rs1989394911
NM_004738.5(VAPB):c.*5789C>T rs867023811
NM_004738.5(VAPB):c.*5795T>G rs886056831
NM_004738.5(VAPB):c.*5815G>A rs886056832
NM_004738.5(VAPB):c.*6068T>C rs897600456
NM_004738.5(VAPB):c.*6631G>T rs1442004772
NM_004738.5(VAPB):c.109G>C (p.Asp37His)
NM_004738.5(VAPB):c.110A>C (p.Asp37Ala) rs755474083
NM_004738.5(VAPB):c.111C>A (p.Asp37Glu) rs781691837
NM_004738.5(VAPB):c.114_118del (p.Asn39fs)
NM_004738.5(VAPB):c.116A>T (p.Asn39Ile)
NM_004738.5(VAPB):c.121T>C (p.Cys41Arg)
NM_004738.5(VAPB):c.122_123del (p.Cys41fs)
NM_004738.5(VAPB):c.13G>A (p.Glu5Lys) rs777026649
NM_004738.5(VAPB):c.149G>T (p.Arg50Leu)
NM_004738.5(VAPB):c.151A>G (p.Arg51Gly)
NM_004738.5(VAPB):c.159del (p.Cys53fs)
NM_004738.5(VAPB):c.166_167delinsGA (p.Pro56Asp)
NM_004738.5(VAPB):c.167C>G (p.Pro56Arg)
NM_004738.5(VAPB):c.16C>G (p.Gln6Glu)
NM_004738.5(VAPB):c.178A>G (p.Ile60Val)
NM_004738.5(VAPB):c.188C>T (p.Ala63Val)
NM_004738.5(VAPB):c.193G>A (p.Ala65Thr)
NM_004738.5(VAPB):c.194C>T (p.Ala65Val) rs1555813002
NM_004738.5(VAPB):c.209C>T (p.Ser70Phe) rs762603323
NM_004738.5(VAPB):c.212-12T>C rs1988997194
NM_004738.5(VAPB):c.212-6_212-5insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTCCGCGGCTGCGGCCTGGGGAGCGGGTGCGCGTTGGTGGTGCGCGCGAGGGCGAGGGCCAGGGAGAGGGAGAGGGAGAGGGAGCGAAATATTTTCTTT
NM_004738.5(VAPB):c.224C>G (p.Pro75Arg) rs2123088879
NM_004738.5(VAPB):c.229G>A (p.Asp77Asn)
NM_004738.5(VAPB):c.242A>G (p.Asn81Ser)
NM_004738.5(VAPB):c.246G>C (p.Glu82Asp) rs2123088925
NM_004738.5(VAPB):c.256C>G (p.His86Asp)
NM_004738.5(VAPB):c.258C>A (p.His86Gln)
NM_004738.5(VAPB):c.283G>C (p.Ala95Pro)
NM_004738.5(VAPB):c.283G>T (p.Ala95Ser)
NM_004738.5(VAPB):c.301G>C (p.Asp101His)
NM_004738.5(VAPB):c.305T>C (p.Met102Thr)
NM_004738.5(VAPB):c.30C>T (p.Leu10=) rs886056811
NM_004738.5(VAPB):c.310G>A (p.Ala104Thr) rs1295445556
NM_004738.5(VAPB):c.31G>C (p.Glu11Gln)
NM_004738.5(VAPB):c.340C>G (p.Leu114Val)
NM_004738.5(VAPB):c.344T>C (p.Met115Thr)
NM_004738.5(VAPB):c.34C>T (p.Pro12Ser) rs1431840351
NM_004738.5(VAPB):c.354A>C (p.Lys118Asn)
NM_004738.5(VAPB):c.35C>T (p.Pro12Leu) rs1987730075
NM_004738.5(VAPB):c.373T>A (p.Leu125Met)
NM_004738.5(VAPB):c.376C>G (p.Pro126Ala)
NM_004738.5(VAPB):c.385A>T (p.Asn129Tyr)
NM_004738.5(VAPB):c.38A>C (p.Gln13Pro) rs760656837
NM_004738.5(VAPB):c.396+6T>C
NM_004738.5(VAPB):c.421A>G (p.Ile141Val) rs1392475929
NM_004738.5(VAPB):c.434C>T (p.Ala145Val)
NM_004738.5(VAPB):c.451C>T (p.Pro151Ser) rs1989146263
NM_004738.5(VAPB):c.454A>G (p.Ile152Val)
NM_004738.5(VAPB):c.455T>C (p.Ile152Thr)
NM_004738.5(VAPB):c.457G>A (p.Val153Met) rs1362788253
NM_004738.5(VAPB):c.460T>A (p.Ser154Thr)
NM_004738.5(VAPB):c.482T>C (p.Leu161Ser) rs1555815825
NM_004738.5(VAPB):c.502_503delinsGT (p.Lys168Val) rs2123099930
NM_004738.5(VAPB):c.512A>T (p.Glu171Val)
NM_004738.5(VAPB):c.518G>A (p.Cys173Tyr) rs1989148708
NM_004738.5(VAPB):c.532G>A (p.Gly178Ser) rs1039112226
NM_004738.5(VAPB):c.542A>G (p.Gln181Arg)
NM_004738.5(VAPB):c.545G>A (p.Arg182Lys) rs1568720020
NM_004738.5(VAPB):c.551G>A (p.Arg184Gln) rs145483046
NM_004738.5(VAPB):c.563A>G (p.Lys188Arg)
NM_004738.5(VAPB):c.563dup (p.Gln189fs)
NM_004738.5(VAPB):c.587T>C (p.Leu196Pro) rs1252954619
NM_004738.5(VAPB):c.589C>T (p.Arg197Trp) rs371134278
NM_004738.5(VAPB):c.59-3C>T
NM_004738.5(VAPB):c.592A>T (p.Met198Leu)
NM_004738.5(VAPB):c.601A>T (p.Thr201Ser) rs757786343
NM_004738.5(VAPB):c.602C>T (p.Thr201Ile)
NM_004738.5(VAPB):c.610A>G (p.Ser204Gly)
NM_004738.5(VAPB):c.635C>A (p.Ala212Asp) rs1989221617
NM_004738.5(VAPB):c.640A>G (p.Thr214Ala)
NM_004738.5(VAPB):c.656G>T (p.Gly219Val) rs786205553
NM_004738.5(VAPB):c.659T>G (p.Leu220Arg) rs1989222839
NM_004738.5(VAPB):c.668G>C (p.Arg223Pro) rs763755820
NM_004738.5(VAPB):c.674T>C (p.Leu225Ser) rs1439925669
NM_004738.5(VAPB):c.677C>A (p.Ala226Asp) rs2123105103
NM_004738.5(VAPB):c.677C>T (p.Ala226Val) rs2123105103
NM_004738.5(VAPB):c.680T>C (p.Leu227Pro)
NM_004738.5(VAPB):c.688T>G (p.Leu230Val) rs1600821730
NM_004738.5(VAPB):c.691T>C (p.Phe231Leu)
NM_004738.5(VAPB):c.700G>A (p.Val234Ile)
NM_004738.5(VAPB):c.704G>T (p.Gly235Val)
NM_004738.5(VAPB):c.709A>G (p.Ile237Val) rs1555816248
NM_004738.5(VAPB):c.70G>A (p.Asp24Asn)
NM_004738.5(VAPB):c.719A>G (p.Lys240Arg)
NM_004738.5(VAPB):c.82A>G (p.Thr28Ala) rs2123058661
NM_004738.5(VAPB):c.85A>G (p.Asn29Asp) rs2123058664
NM_004738.5(VAPB):c.86A>G (p.Asn29Ser) rs1293144080
NM_004738.5(VAPB):c.93G>T (p.Lys31Asn)

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