ClinVar Miner

List of variants reported as pathogenic for Autoimmune lymphoproliferative syndrome, type 1a by OMIM

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000043.6(FAS):c.232del (p.Asp78fs) rs606231361
NM_000043.6(FAS):c.334+2dup rs606231362
NM_000043.6(FAS):c.361C>T (p.Arg121Trp) rs121913078
NM_000043.6(FAS):c.569-2A>C rs606231363
NM_000043.6(FAS):c.651+2T>A rs267607122
NM_000043.6(FAS):c.651+2T>C rs267607122
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.721A>C (p.Thr241Pro) rs121913076
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.749G>C (p.Arg250Pro) rs121913080
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.817C>T (p.Gln273Ter) rs121913077
NM_000043.6(FAS):c.968_987dup (p.Glu330fs) rs606231365

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