ClinVar Miner

List of variants reported as uncertain significance 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: 47
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HGVS dbSNP gnomAD frequency
NM_000639.3(FASLG):c.*612T>A rs868507856 0.05258
NM_000639.3(FASLG):c.*608T>A rs867998396 0.00352
NM_000639.3(FASLG):c.*600G>T rs886045574 0.00133
NM_000043.6(FAS):c.-10C>A rs200181814 0.00019
NM_000043.6(FAS):c.*1294A>T rs9658778 0.00016
NM_000639.3(FASLG):c.*54A>T rs550027918 0.00013
NM_000043.6(FAS):c.251C>T (p.Pro84Leu) rs778483787 0.00009
NM_000043.6(FAS):c.*520T>C rs886047462 0.00006
NM_000639.2(FASLG):c.-136G>A rs55804267 0.00004
NM_000639.3(FASLG):c.*306A>C rs556639319 0.00004
NM_032977.4(CASP10):c.729A>G (p.Arg243=) rs374515060 0.00004
NM_000043.6(FAS):c.488C>T (p.Thr163Ile) rs563551720 0.00003
NM_000639.3(FASLG):c.*120G>A rs886045571 0.00003
NM_000043.6(FAS):c.*386A>G rs1186205053 0.00002
NM_000043.6(FAS):c.*839A>G rs779728201 0.00002
NM_000043.6(FAS):c.*874T>A rs1436430653 0.00002
NM_000639.3(FASLG):c.*203C>T rs886045572 0.00002
NM_000043.6(FAS):c.*1313G>A rs192544176 0.00001
NM_000043.6(FAS):c.176G>T (p.Cys59Phe) rs886047459 0.00001
NM_000043.6(FAS):c.694T>C (p.Tyr232His) rs767866112 0.00001
NM_000639.3(FASLG):c.*119G>A rs753021852 0.00001
NM_000639.3(FASLG):c.412C>T (p.Pro138Ser) rs756917304 0.00001
NM_000639.3(FASLG):c.452-12G>A rs759351686 0.00001
NM_001141945.3(ACTA2):c.-24+350G>A rs938458478 0.00001
NM_000043.6(FAS):c.*1153A>T rs986613204
NM_000043.6(FAS):c.*119C>T rs1848699181
NM_000043.6(FAS):c.*566C>G rs886047463
NM_000043.6(FAS):c.*586G>A rs1848730964
NM_000043.6(FAS):c.*88T>C rs886047461
NM_000043.6(FAS):c.30+6C>T rs1847139427
NM_000043.6(FAS):c.31-9A>G rs886047458
NM_000043.6(FAS):c.432C>T (p.Asp144=) rs574338716
NM_000043.6(FAS):c.444-5del rs751798922
NM_000043.6(FAS):c.652-12T>A rs1214604414
NM_000043.6(FAS):c.676+12A>C rs777843173
NM_000043.6(FAS):c.84T>C (p.Thr28=) rs1848023281
NM_000639.3(FASLG):c.*601GT[14] rs10640513
NM_000639.3(FASLG):c.*601GT[18] rs10640513
NM_000639.3(FASLG):c.*601GT[19] rs10640513
NM_000639.3(FASLG):c.171GCC[2] (p.Pro61_Pro62del) rs772297337
NM_000639.3(FASLG):c.42G>C (p.Trp14Cys) rs886045569
NM_000639.3(FASLG):c.749A>T (p.Asn250Ile) rs376317481
NM_001141945.3(ACTA2):c.-24+236C>T rs886047457
NM_001141945.3(ACTA2):c.-24+399C>T rs886047456
NM_032977.4(CASP10):c.*2295T>A rs886055420
NM_032977.4(CASP10):c.*2594del rs41351949
NM_032977.4(CASP10):c.*2927_*2928del rs886055426

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