ClinVar Miner

List of variants reported as uncertain significance for type IV hypersensitivity disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
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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_001372051.1(CASP8):c.*316C>T rs35419671 0.00178
NM_000639.3(FASLG):c.*600G>T rs886045574 0.00133
NM_001372051.1(CASP8):c.*107C>T rs184368293 0.00123
NM_032977.4(CASP10):c.*480A>G rs539196058 0.00104
NM_001372051.1(CASP8):c.1304+12C>T rs375465590 0.00081
NM_001372051.1(CASP8):c.892A>G (p.Ile298Val) rs146286958 0.00064
NM_032977.4(CASP10):c.*3613C>T rs774470649 0.00046
NM_032977.4(CASP10):c.*1624T>C rs150841386 0.00044
NM_032977.4(CASP10):c.*2590G>C rs74267227 0.00044
NM_032977.4(CASP10):c.*3420C>T rs536711035 0.00043
NM_032977.4(CASP10):c.*136A>G rs747374452 0.00036
NM_032977.4(CASP10):c.-8+5G>A rs781551128 0.00034
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_000043.6(FAS):c.-10C>A rs200181814 0.00019
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_000043.6(FAS):c.*1294A>T rs9658778 0.00016
NM_001372051.1(CASP8):c.*98C>T rs36155452 0.00016
NM_001372051.1(CASP8):c.*686C>T rs1021711220 0.00014
NM_000639.3(FASLG):c.*54A>T rs550027918 0.00013
NM_001372051.1(CASP8):c.*591T>C rs187758494 0.00011
NM_032977.4(CASP10):c.*3488G>A rs773594343 0.00011
NM_000043.6(FAS):c.251C>T (p.Pro84Leu) rs778483787 0.00009
NM_032977.4(CASP10):c.*1654C>T rs951660640 0.00009
NM_000043.6(FAS):c.*520T>C rs886047462 0.00006
NM_032977.4(CASP10):c.*1257G>A rs886055414 0.00006
NM_032977.4(CASP10):c.*3365A>G rs886055429 0.00006
NM_032977.4(CASP10):c.620C>T (p.Ser207Leu) rs770997816 0.00006
NM_001372051.1(CASP8):c.1308C>T (p.Gly436=) rs777463099 0.00005
NM_032977.4(CASP10):c.*3835G>A rs536525827 0.00005
NM_000639.2(FASLG):c.-136G>A rs55804267 0.00004
NM_000639.3(FASLG):c.*306A>C rs556639319 0.00004
NM_001372051.1(CASP8):c.*891C>T rs1316267855 0.00004
NM_032977.4(CASP10):c.*3437C>A rs1349250158 0.00004
NM_032977.4(CASP10):c.507C>G (p.Cys169Trp) rs774005416 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_001372051.1(CASP8):c.306-1980C>A rs376590303 0.00003
NM_001372051.1(CASP8):c.919A>G (p.Met307Val) rs148960588 0.00003
NM_032977.4(CASP10):c.*1327G>A rs1945654880 0.00003
NM_032977.4(CASP10):c.*1538T>A rs886055416 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_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_032977.4(CASP10):c.*1366T>C rs886055415 0.00002
NM_032977.4(CASP10):c.*1954C>T rs998383242 0.00002
NM_032977.4(CASP10):c.*2844C>T rs886055424 0.00002
NM_032977.4(CASP10):c.*3478T>G rs886055431 0.00002
NM_032977.4(CASP10):c.*3845C>T rs886535066 0.00002
NM_032977.4(CASP10):c.*733A>T rs1019052979 0.00002
NM_000043.5(FAS):c.-288C>T rs938458478 0.00001
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_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_032977.4(CASP10):c.*1038C>T rs886055412 0.00001
NM_032977.4(CASP10):c.*1395G>A rs747068686 0.00001
NM_032977.4(CASP10):c.*333C>T rs886055407 0.00001
NM_032977.4(CASP10):c.*3473T>G rs886055430 0.00001
NM_032977.4(CASP10):c.*657G>C rs886055408 0.00001
NM_032977.4(CASP10):c.*732T>A rs886055409 0.00001
NM_032977.4(CASP10):c.*740T>G rs1657316373 0.00001
NM_032977.4(CASP10):c.*905C>T rs886055411 0.00001
NM_032977.4(CASP10):c.1060T>C (p.Cys354Arg) rs1233007817 0.00001
NM_032977.4(CASP10):c.442-14T>G rs755555484 0.00001
NM_032977.4(CASP10):c.502A>G (p.Thr168Ala) rs371962581 0.00001
NM_032977.4(CASP10):c.81T>C (p.Ile27=) rs751728796 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_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
NM_032977.3(CASP10):c.-314G>A rs1284865224
NM_032977.4(CASP10):c.*1022C>T rs1323062174
NM_032977.4(CASP10):c.*1125T>C rs886055413
NM_032977.4(CASP10):c.*116C>A rs912143180
NM_032977.4(CASP10):c.*1258G>T rs1945653563
NM_032977.4(CASP10):c.*1542A>T rs41484449
NM_032977.4(CASP10):c.*1909A>G rs886055417
NM_032977.4(CASP10):c.*2295T>A rs886055420
NM_032977.4(CASP10):c.*2381G>C rs1945684785
NM_032977.4(CASP10):c.*2425C>G rs886055421
NM_032977.4(CASP10):c.*2594del rs41351949
NM_032977.4(CASP10):c.*2600G>T rs886055423
NM_032977.4(CASP10):c.*2741C>G rs1481895284
NM_032977.4(CASP10):c.*2869A>C rs886055425
NM_032977.4(CASP10):c.*2927_*2928del rs886055426
NM_032977.4(CASP10):c.*2979C>T rs886055427
NM_032977.4(CASP10):c.*2986C>T rs886055428
NM_032977.4(CASP10):c.*3510G>A rs1945713262
NM_032977.4(CASP10):c.*3591A>G rs1297066259
NM_032977.4(CASP10):c.*607G>A rs1326674355
NM_032977.4(CASP10):c.*632G>A rs1945638403
NM_032977.4(CASP10):c.*911T>G rs1945646004
NM_032977.4(CASP10):c.1025A>G (p.Asn342Ser) rs1945312624
NM_032977.4(CASP10):c.1316G>T (p.Gly439Val) rs764646945
NM_032977.4(CASP10):c.361G>A (p.Glu121Lys) rs565907504
NM_032977.4(CASP10):c.534A>G (p.Val178=) rs146233833
NM_032977.4(CASP10):c.721G>C (p.Gly241Arg) rs779013005

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