ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_032977.4(CASP10):c.*480A>G rs539196058 0.00104
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 0.00038
NM_032977.4(CASP10):c.-8+5G>A rs781551128 0.00034
NM_032977.4(CASP10):c.*3488G>A rs773594343 0.00011
NM_032977.4(CASP10):c.*1257G>A rs886055414 0.00010
NM_032977.4(CASP10):c.*1654C>T rs951660640 0.00009
NM_032977.4(CASP10):c.*1038C>T rs886055412 0.00006
NM_032977.4(CASP10):c.*1366T>C rs886055415 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.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.*3365A>G rs886055429 0.00003
NM_032977.4(CASP10):c.*732T>A rs886055409 0.00003
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.*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.*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_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.*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.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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