ClinVar Miner

List of variants reported as uncertain significance for autoimmune lymphoproliferative syndrome type 2B by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_001372051.1(CASP8):c.*316C>T rs35419671 0.00178
NM_001372051.1(CASP8):c.*107C>T rs184368293 0.00123
NM_001372051.1(CASP8):c.1304+12C>T rs375465590 0.00081
NM_001372051.1(CASP8):c.892A>G (p.Ile298Val) rs146286958 0.00064
NM_001372051.1(CASP8):c.*314C>T rs906158329 0.00026
NM_001228.4(CASP8):c.-310A>G rs527497064 0.00023
NM_001372051.1(CASP8):c.*812T>A rs538987233 0.00022
NM_001372051.1(CASP8):c.443A>G (p.Lys148Arg) rs148697064 0.00019
NM_001372051.1(CASP8):c.*124C>T rs886055432 0.00018
NM_001372051.1(CASP8):c.432A>G (p.Ile144Met) rs149933993 0.00017
NM_001372051.1(CASP8):c.*98C>T rs36155452 0.00016
NM_001372051.1(CASP8):c.*686C>T rs1021711220 0.00014
NM_001372051.1(CASP8):c.*591T>C rs187758494 0.00011
NM_001372051.1(CASP8):c.1308C>T (p.Gly436=) rs777463099 0.00005
NM_001372051.1(CASP8):c.*891C>T rs1316267855 0.00004
NM_001372051.1(CASP8):c.306-1980C>A rs376590303 0.00003
NM_001372051.1(CASP8):c.919A>G (p.Met307Val) rs148960588 0.00003
NM_001372051.1(CASP8):c.452T>C (p.Ile151Thr) rs367807709 0.00002
NM_001372051.1(CASP8):c.528C>T (p.Asn176=) rs774015258 0.00002
NM_001372051.1(CASP8):c.660+6C>T rs370400442 0.00002
NM_001372051.1(CASP8):c.843C>A (p.Ile281=) rs199934929 0.00002
NM_001228.5(CASP8):c.-83T>C rs1275984964 0.00001
NM_001372051.1(CASP8):c.*194T>A rs577963682 0.00001
NM_001372051.1(CASP8):c.*304C>T rs886055433 0.00001
NM_001372051.1(CASP8):c.1012T>G (p.Ser338Ala) rs771197994 0.00001
NM_001372051.1(CASP8):c.1038T>C (p.Pro346=) rs768360449 0.00001
NM_001372051.1(CASP8):c.1165C>T (p.Gln389Ter) rs747862347 0.00001
NM_001372051.1(CASP8):c.469T>C (p.Leu157=) rs759581547 0.00001
NM_001372051.1(CASP8):c.603G>C (p.Glu201Asp) rs553241803 0.00001
NM_001228.5(CASP8):c.-117C>A rs1945936282
NM_001228.5(CASP8):c.-208A>G rs1576164512
NM_001372051.1(CASP8):c.*223C>T rs1949586192
NM_001372051.1(CASP8):c.*266C>G rs749953038
NM_001372051.1(CASP8):c.*272A>G rs1439186063
NM_001372051.1(CASP8):c.*346C>T rs1949592559
NM_001372051.1(CASP8):c.*578C>A rs886055434
NM_001372051.1(CASP8):c.698G>A (p.Arg233Gln) rs771150445

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