ClinVar Miner

List of variants studied for Autoimmune lymphoproliferative syndrome type 2A by Illumina Laboratory Services, Illumina

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Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_032977.4(CASP10):c.177A>G (p.Ser59=) rs3900115 0.49172
NM_032977.4(CASP10):c.1564T>A (p.Leu522Ile) rs13006529 0.42733
NM_032977.3(CASP10):c.-206C>T rs16836789 0.12450
NM_032977.4(CASP10):c.*285G>A rs3851974 0.11086
NM_032977.4(CASP10):c.*277G>A rs3931696 0.11064
NM_032977.4(CASP10):c.923-3C>T rs6753900 0.06908
NM_032977.4(CASP10):c.*1920G>C rs11885191 0.06626
NM_032977.3(CASP10):c.-360T>C rs41429849 0.06590
NM_032977.4(CASP10):c.*2757A>G rs13414860 0.06432
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile) rs13010627 0.04350
NM_032977.4(CASP10):c.*815C>T rs17860409 0.03348
NM_032977.4(CASP10):c.1337A>G (p.Tyr446Cys) rs17860405 0.02926
NM_032977.4(CASP10):c.*367G>C rs41365346 0.01382
NM_032977.4(CASP10):c.*3513A>G rs6752492 0.00762
NM_032977.4(CASP10):c.*2689A>G rs41447745 0.00601
NM_032977.4(CASP10):c.*2831C>T rs151162733 0.00535
NM_032977.4(CASP10):c.*2289A>C rs41369551 0.00488
NM_032977.4(CASP10):c.*1471G>A rs192319559 0.00466
NM_032977.4(CASP10):c.*665G>A rs142072849 0.00456
NM_032977.4(CASP10):c.*77T>G rs191438878 0.00455
NM_032977.4(CASP10):c.*3137G>C rs41522046 0.00417
NM_032977.4(CASP10):c.*2618G>A rs41431151 0.00382
NM_032977.4(CASP10):c.*1043C>T rs553212718 0.00334
NM_032977.4(CASP10):c.*1593T>C rs564618271 0.00307
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu) rs80358239 0.00307
NM_032977.4(CASP10):c.*1793C>A rs114760847 0.00258
NM_032977.4(CASP10):c.*1955G>A rs139807893 0.00249
NM_032977.4(CASP10):c.*3071G>A rs41339144 0.00247
NM_032977.4(CASP10):c.534A>C (p.Val178=) rs146233833 0.00226
NM_032977.4(CASP10):c.*1688A>G rs41515650 0.00191
NM_032977.4(CASP10):c.*480A>G rs539196058 0.00104
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu) rs148939095 0.00091
NM_032977.4(CASP10):c.*1914C>T rs185318287 0.00070
NM_032977.4(CASP10):c.347+8C>T rs140246829 0.00056
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_032977.4(CASP10):c.*739T>C rs559831804 0.00024
NM_032977.4(CASP10):c.1347T>C (p.Phe449=) rs147814983 0.00021
NM_032977.4(CASP10):c.930G>T (p.Leu310=) rs149096064 0.00020
NM_032977.4(CASP10):c.913A>G (p.Lys305Glu) rs149912574 0.00015
NM_032977.4(CASP10):c.*230G>A rs565567149 0.00014
NM_032977.4(CASP10):c.1415+8C>G rs200638628 0.00013
NM_032977.4(CASP10):c.666A>G (p.Thr222=) rs116125703 0.00013
NM_032977.4(CASP10):c.*3488G>A rs773594343 0.00011
NM_032977.4(CASP10):c.*1654C>T rs951660640 0.00009
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_032977.4(CASP10):c.*3835G>A rs536525827 0.00005
NM_032977.4(CASP10):c.*3437C>A rs1349250158 0.00004
NM_032977.4(CASP10):c.1466G>A (p.Arg489Gln) rs535121774 0.00004
NM_032977.4(CASP10):c.20A>G (p.His7Arg) rs200935960 0.00004
NM_032977.4(CASP10):c.507C>G (p.Cys169Trp) rs774005416 0.00004
NM_032977.4(CASP10):c.*1327G>A rs1945654880 0.00003
NM_032977.4(CASP10):c.*1538T>A rs886055416 0.00003
NM_032977.4(CASP10):c.*846A>G rs41529249 0.00003
NM_032977.4(CASP10):c.1350G>T (p.Arg450=) rs370670949 0.00003
NM_032977.4(CASP10):c.879C>A (p.Ser293Arg) rs369897442 0.00003
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_032977.4(CASP10):c.*1038C>T rs886055412 0.00001
NM_032977.4(CASP10):c.*1395G>A rs747068686 0.00001
NM_032977.4(CASP10):c.*3019C>T rs548104022 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.49A>G (p.Lys17Glu) rs552561721 0.00001
NM_032977.4(CASP10):c.502A>G (p.Thr168Ala) rs371962581 0.00001
NM_032977.4(CASP10):c.721G>A (p.Gly241Ser) rs779013005 0.00001
NM_032977.4(CASP10):c.81T>C (p.Ile27=) rs751728796 0.00001
NM_032977.4(CASP10):c.923-13T>G rs776612061 0.00001
NM_032977.3(CASP10):c.-285C>T rs530526445
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.*1520C>T rs41331447
NM_032977.4(CASP10):c.*1542A>T rs41484449
NM_032977.4(CASP10):c.*1909A>G rs886055417
NM_032977.4(CASP10):c.*2381G>C rs1945684785
NM_032977.4(CASP10):c.*2425C>G rs886055421
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.*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.174C>T (p.Ala58=) rs114625983
NM_032977.4(CASP10):c.347+9G>T rs7608787
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
NM_032977.4(CASP10):c.923-12G>T rs201904750

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