ClinVar Miner

List of variants reported as pathogenic for autoimmune lymphoproliferative syndrome type 1 by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NC_000001.10:g.(?_171605065)_(173962123_?)del
NC_000010.10:g.(?_90749963)_(90750683_?)del
NC_000010.10:g.(?_90762766)_(90762971_?)del
NC_000010.10:g.(?_90767437)_(90770592_?)del
NC_000010.11:g.(?_88770845)_(89328078_?)del
NC_000010.11:g.(?_88989499)_(89247668_?)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.182_183insTTAT (p.Lys61fs) rs2133472134
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+2dup rs606231362
NM_000043.6(FAS):c.335-2A>G
NM_000043.6(FAS):c.356del (p.Cys119fs)
NM_000043.6(FAS):c.38del (p.Thr13fs) rs1842954041
NM_000043.6(FAS):c.403del (p.Cys135fs) rs1564692984
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.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>C rs267607122
NM_000043.6(FAS):c.652-1G>A rs1589488463
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.707_708insG (p.Ile236fs) rs2119445224
NM_000043.6(FAS):c.722C>A (p.Thr241Lys)
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.779A>T (p.Asp260Val) rs28929498
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_000639.3(FASLG):c.343C>T (p.Arg115Ter) rs773045347
NM_000639.3(FASLG):c.44del (p.Val15fs)

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