ClinVar Miner

List of variants in gene FAS reported as likely 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: 19
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HGVS dbSNP gnomAD frequency
NM_000043.6(FAS):c.197-1G>A rs2133502090
NM_000043.6(FAS):c.197-2A>G rs1564691414
NM_000043.6(FAS):c.323A>G (p.Asp108Gly) rs1848315820
NM_000043.6(FAS):c.341A>T (p.Glu114Val)
NM_000043.6(FAS):c.404G>A (p.Cys135Tyr)
NM_000043.6(FAS):c.505+1G>C rs2133527951
NM_000043.6(FAS):c.536T>G (p.Leu179Arg) rs1554851718
NM_000043.6(FAS):c.569-1G>T
NM_000043.6(FAS):c.651+1G>A rs1564696849
NM_000043.6(FAS):c.651+5G>T
NM_000043.6(FAS):c.693dup (p.Tyr232fs)
NM_000043.6(FAS):c.718_719insGTCG (p.Met240fs)
NM_000043.6(FAS):c.748C>T (p.Arg250Ter) rs778993919
NM_000043.6(FAS):c.776T>C (p.Ile259Thr) rs1848675068
NM_000043.6(FAS):c.779A>G (p.Asp260Gly)
NM_000043.6(FAS):c.789G>C (p.Lys263Asn) rs2119446096
NM_000043.6(FAS):c.802dup (p.Gln268fs)
NM_000043.6(FAS):c.814G>C (p.Glu272Gln)
NM_000043.6(FAS):c.833T>A (p.Leu278His)

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