ClinVar Miner

List of variants studied 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: 107
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HGVS dbSNP gnomAD frequency
NM_000043.6(FAS):c.642T>C (p.Thr214=) rs2234978 0.72086
NM_000043.6(FAS):c.*1084C>T rs1468063 0.16498
NM_000043.6(FAS):c.*565A>T rs1051070 0.07031
NM_000639.3(FASLG):c.*612T>A rs868507856 0.05258
NM_000639.3(FASLG):c.147G>A (p.Pro49=) rs61756244 0.05080
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619 0.03995
NM_000043.6(FAS):c.222A>G (p.Thr74=) rs2229521 0.03925
NM_000043.6(FAS):c.*765T>C rs9658776 0.03922
NM_001141945.3(ACTA2):c.-24+157C>T rs2274355 0.03855
NM_000043.6(FAS):c.-34A>G rs5030766 0.02841
NM_000043.6(FAS):c.*142A>G rs9658774 0.02166
NM_000043.6(FAS):c.141G>A (p.Gln47=) rs3218621 0.02156
NM_000043.6(FAS):c.365C>T (p.Thr122Ile) rs3218614 0.00774
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613 0.00606
NM_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318 0.00529
NM_001141945.3(ACTA2):c.-24+357C>T rs9658677 0.00433
NM_000639.3(FASLG):c.*606T>A rs74124375 0.00364
NM_000639.3(FASLG):c.*608T>A rs867998396 0.00352
NM_001141945.3(ACTA2):c.-24+409G>A rs56220100 0.00346
NM_000043.6(FAS):c.550A>G (p.Ile184Val) rs28362322 0.00324
NM_000639.3(FASLG):c.451+7A>G rs201525996 0.00210
NM_000639.3(FASLG):c.*817A>G rs45442301 0.00162
NM_000639.3(FASLG):c.*406G>T rs138658215 0.00150
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_000043.6(FAS):c.33T>A (p.Val11=) rs113022949 0.00135
NM_000639.3(FASLG):c.*600G>T rs886045574 0.00133
NM_000043.6(FAS):c.*436C>T rs143388574 0.00132
NM_000043.6(FAS):c.*638T>C rs192032778 0.00117
NM_000043.6(FAS):c.103T>C (p.Leu35=) rs9333296 0.00083
NM_000043.6(FAS):c.*1333G>T rs9658779 0.00071
NM_000043.6(FAS):c.*1203G>A rs190060976 0.00062
NM_000639.3(FASLG):c.108G>A (p.Val36=) rs140595317 0.00054
NM_000639.3(FASLG):c.*754G>A rs55779656 0.00049
NM_000639.3(FASLG):c.395-15C>G rs370579312 0.00038
NM_000639.3(FASLG):c.174G>A (p.Pro58=) rs372411796 0.00034
NM_000639.3(FASLG):c.364C>A (p.His122Asn) rs140406512 0.00034
NM_000639.3(FASLG):c.280T>G (p.Leu94Val) rs56302117 0.00033
NM_000043.6(FAS):c.*978C>T rs181225729 0.00032
NM_000639.3(FASLG):c.*725A>G rs542205727 0.00030
NM_000043.6(FAS):c.578A>G (p.Lys193Arg) rs150489856 0.00026
NM_000639.3(FASLG):c.360G>C (p.Gln120His) rs372615226 0.00026
NM_000043.6(FAS):c.*582T>G rs542335688 0.00023
NM_000043.6(FAS):c.*84G>A rs754986111 0.00020
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.*3G>T rs200021473 0.00016
NM_000639.3(FASLG):c.*54A>T rs550027918 0.00013
NM_000043.6(FAS):c.*70G>C rs80330323 0.00012
NM_000043.6(FAS):c.*853C>T rs770098016 0.00010
NM_000043.6(FAS):c.251C>T (p.Pro84Leu) rs778483787 0.00009
NM_000639.3(FASLG):c.177G>A (p.Pro59=) rs559795993 0.00009
NM_000043.6(FAS):c.*174A>G rs776971935 0.00007
NM_000043.6(FAS):c.*520T>C rs886047462 0.00006
NM_000639.3(FASLG):c.278C>T (p.Ala93Val) rs758796005 0.00005
NM_000639.2(FASLG):c.-136G>A rs55804267 0.00004
NM_000639.3(FASLG):c.*306A>C rs556639319 0.00004
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_032977.4(CASP10):c.729A>G (p.Arg243=) rs374515060 0.00004
NM_000043.6(FAS):c.488C>T (p.Thr163Ile) rs563551720 0.00003
NM_000043.6(FAS):c.867A>C (p.Glu289Asp) rs377337130 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.30+12C>T rs558072404 0.00001
NM_000043.6(FAS):c.694T>C (p.Tyr232His) rs767866112 0.00001
NM_000043.6(FAS):c.78A>G (p.Gln26=) rs746017530 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.451+8T>A rs372021169 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[13] rs10640513
NM_000639.3(FASLG):c.*601GT[14] rs10640513
NM_000639.3(FASLG):c.*601GT[17] 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_001141945.3(ACTA2):c.-24+414_-24+415del rs553556054
NM_032977.4(CASP10):c.*1982del rs111572089
NM_032977.4(CASP10):c.*2177del rs528903184
NM_032977.4(CASP10):c.*2295T>A rs886055420
NM_032977.4(CASP10):c.*2594del rs41351949
NM_032977.4(CASP10):c.*2927_*2928del rs886055426
NM_032977.4(CASP10):c.*741del rs41506545
NM_032977.4(CASP10):c.923-12del rs367989998

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