ClinVar Miner

List of variants reported as likely benign for autoimmune lymphoproliferative syndrome type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001141945.3(ACTA2):c.-24+357C>T rs9658677 0.00433
NM_001141945.3(ACTA2):c.-24+409G>A rs56220100 0.00346
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_000043.6(FAS):c.*436C>T rs143388574 0.00132
NM_000639.3(FASLG):c.174G>A (p.Pro58=) rs372411796 0.00034
NM_000043.6(FAS):c.*978C>T rs181225729 0.00032
NM_000043.6(FAS):c.*70G>C rs80330323 0.00012
NM_000639.3(FASLG):c.278C>T (p.Ala93Val) rs758796005 0.00005
NM_000639.3(FASLG):c.*32T>C rs775421228 0.00004
NM_000639.3(FASLG):c.-16T>C rs781373207 0.00004
NM_000639.3(FASLG):c.176C>T (p.Pro59Leu) rs375737004 0.00004
NM_000043.6(FAS):c.867A>C (p.Glu289Asp) rs377337130 0.00003
NM_001141945.3(ACTA2):c.-24+414_-24+415del rs553556054
NM_032977.4(CASP10):c.*2177del rs528903184
NM_032977.4(CASP10):c.*741del rs41506545
NM_032977.4(CASP10):c.923-12del rs367989998

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