ClinVar Miner

List of variants in gene FAS reported as pathogenic for autoimmune lymphoproliferative syndrome type 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000010.10:g.(?_90767437)_(90770592_?)del
NM_000043.6(FAS):c.110T>A (p.Leu37Ter) rs1564686301
NM_000043.6(FAS):c.115A>T (p.Lys39Ter)
NM_000043.6(FAS):c.178del (p.His60fs) rs1589465172
NM_000043.6(FAS):c.182_183insTTAT (p.Lys61fs) rs2133472134
NM_000043.6(FAS):c.232del (p.Asp78fs) rs606231361
NM_000043.6(FAS):c.259G>T (p.Glu87Ter) rs2133503091
NM_000043.6(FAS):c.312dup (p.Arg105Ter) rs2133503921
NM_000043.6(FAS):c.332A>G (p.His111Arg) rs2133504109
NM_000043.6(FAS):c.334+2T>C
NM_000043.6(FAS):c.334+2dup rs606231362
NM_000043.6(FAS):c.335-2A>G
NM_000043.6(FAS):c.356del (p.Cys119fs)
NM_000043.6(FAS):c.361C>T (p.Arg121Trp) rs121913078
NM_000043.6(FAS):c.38del (p.Thr13fs) rs1842954041
NM_000043.6(FAS):c.403del (p.Cys135fs) rs1564692984
NM_000043.6(FAS):c.415del (p.Val139fs) rs1589478691
NM_000043.6(FAS):c.442A>T (p.Lys148Ter) rs2133515017
NM_000043.6(FAS):c.46_47del (p.Val15_Ala16insTer) rs1848019699
NM_000043.6(FAS):c.476_489del (p.Leu159fs)
NM_000043.6(FAS):c.498del (p.Glu167fs)
NM_000043.6(FAS):c.506-16A>G rs2133529359
NM_000043.6(FAS):c.506-1G>C
NM_000043.6(FAS):c.528G>A (p.Trp176Ter) rs866771343
NM_000043.6(FAS):c.538C>T (p.Leu180Phe)
NM_000043.6(FAS):c.563_566del (p.Val188fs) rs1207744817
NM_000043.6(FAS):c.569-2A>C rs606231363
NM_000043.6(FAS):c.617del (p.Asn206fs) rs1848558128
NM_000043.6(FAS):c.644T>A (p.Leu215Ter) rs2133539468
NM_000043.6(FAS):c.651+1G>A rs1564696849
NM_000043.6(FAS):c.651+1G>T rs1564696849
NM_000043.6(FAS):c.651+2T>A rs267607122
NM_000043.6(FAS):c.651+2T>C rs267607122
NM_000043.6(FAS):c.651+2_651+3insTGAAAT rs1589485636
NM_000043.6(FAS):c.652-1G>A rs1589488463
NM_000043.6(FAS):c.657_658del (p.Val220fs) rs1589488494
NM_000043.6(FAS):c.657del (p.Val220fs) rs2133547404
NM_000043.6(FAS):c.676+1G>A rs1589488640
NM_000043.6(FAS):c.676+1G>C
NM_000043.6(FAS):c.676+1G>T rs1589488640
NM_000043.6(FAS):c.685_686del (p.Leu229fs) rs2119445087
NM_000043.6(FAS):c.692_693insT (p.Lys231fs) rs606231366
NM_000043.6(FAS):c.695A>G (p.Tyr232Cys) rs121913079
NM_000043.6(FAS):c.707_708insG (p.Ile236fs) rs2119445224
NM_000043.6(FAS):c.721A>C (p.Thr241Pro) rs121913076
NM_000043.6(FAS):c.722C>A (p.Thr241Lys)
NM_000043.6(FAS):c.73G>A (p.Ala25Thr) rs606231364
NM_000043.6(FAS):c.740G>C (p.Gly247Ala) rs121913085
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000043.6(FAS):c.749G>A (p.Arg250Gln) rs121913080
NM_000043.6(FAS):c.749G>C (p.Arg250Pro) rs121913080
NM_000043.6(FAS):c.755del (p.Asn252fs) rs1564699214
NM_000043.6(FAS):c.758G>T (p.Gly253Val) rs1848671126
NM_000043.6(FAS):c.775del (p.Lys258_Ile259insTer)
NM_000043.6(FAS):c.778G>A (p.Asp260Asn) rs121913086
NM_000043.6(FAS):c.778G>T (p.Asp260Tyr) rs121913086
NM_000043.6(FAS):c.779A>T (p.Asp260Val) rs28929498
NM_000043.6(FAS):c.809C>T (p.Thr270Ile) rs121913081
NM_000043.6(FAS):c.814G>A (p.Glu272Lys)
NM_000043.6(FAS):c.816del (p.Glu272fs) rs2119446366
NM_000043.6(FAS):c.817C>T (p.Gln273Ter) rs121913077
NM_000043.6(FAS):c.879_880del (p.Leu294fs) rs886039524
NM_000043.6(FAS):c.881del (p.Thr293_Leu294insTer)
NM_000043.6(FAS):c.968_987dup (p.Glu330fs) rs606231365

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.