ClinVar Miner

List of variants reported as uncertain significance for adult-onset proximal spinal muscular atrophy, autosomal dominant by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
Download table as spreadsheet
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.-166G>A rs553588236 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_004738.4(VAPB):c.-283A>C rs886056804 0.00013
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.-189C>T rs886056807 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.*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.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_004738.4(VAPB):c.-349G>T rs1198298691 0.00001
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.332C>T (p.Pro111Leu) rs777316448 0.00001
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.-152C>A rs753958893
NM_004738.5(VAPB):c.212-12T>C rs1988997194
NM_004738.5(VAPB):c.30C>T (p.Leu10=) rs886056811
NM_004738.5(VAPB):c.310G>A (p.Ala104Thr) rs1295445556

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.