ClinVar Miner

List of variants in gene CASP8 reported as pathogenic for autoimmune disease

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001372051.1(CASP8):c.1165C>T (p.Gln389Ter) rs747862347 0.00001
NM_001372051.1(CASP8):c.742C>T (p.Arg248Trp) rs17860424 0.00001
NM_001372051.1(CASP8):c.1303C>T (p.Arg435Ter) rs1368296717
NM_001372051.1(CASP8):c.202C>T (p.Arg68Ter) rs777784105
NM_001372051.1(CASP8):c.306-1930dup
NM_001372051.1(CASP8):c.306-1949_306-1947delinsC rs765672355
NM_001372051.1(CASP8):c.306-1954_306-1953del
NM_001372051.1(CASP8):c.306-1976del
NM_001372051.1(CASP8):c.306-1978G>T
NM_001372051.1(CASP8):c.306-1981del rs776712453
NM_001372051.1(CASP8):c.429_430insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGAAGCTCCCAAGATGACTACCTCCAGCCTCTGGCCACAGGGAACCTTCTTCATATCCCACAAGCAAAGGAGCTGGATATTTTC (p.Phe143_Ile144insPhePhePhePhePhePheXaaXaaXaaXaaGlySerSerGlnAspAspTyrLeuGlnProLeuAlaThrGlyAsnLeuLeuHisIleProGlnAlaLysGluLeuAspIlePhe)
NM_001372051.1(CASP8):c.492_493del (p.Ala165fs)
NM_001372051.1(CASP8):c.679C>T (p.Gln227Ter)
NM_001372051.1(CASP8):c.879T>A (p.Tyr293Ter) rs1457092267
NM_001372051.1(CASP8):c.918del (p.Asn306fs)
NM_001372051.1(CASP8):c.983dup (p.Gln329fs)

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