ClinVar Miner

List of variants in gene CASP8 reported as benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001372051.1(CASP8):c.1305-19A>G rs3769818 0.71850
NM_001372051.1(CASP8):c.*122G>C rs3185378 0.55328
NM_001372051.1(CASP8):c.*845T>A rs13113 0.33069
NM_001372051.1(CASP8):c.*83G>A rs17860428 0.13714
NM_001372051.1(CASP8):c.*175C>T rs2141331 0.12768
NM_001372051.1(CASP8):c.*464T>C rs1045494 0.09887
NM_001372051.1(CASP8):c.960G>A (p.Lys320=) rs1045487 0.09873
NM_001372051.1(CASP8):c.*99G>A rs13425383 0.05700
NM_001372051.1(CASP8):c.*429A>G rs17860433 0.03449
NM_001372051.1(CASP8):c.*411G>C rs17860432 0.02398
NM_001372051.1(CASP8):c.*60C>T rs13425113 0.00993
NM_001228.5(CASP8):c.-143T>G rs34609836 0.00568
NM_001372051.1(CASP8):c.306-1918T>C rs11897628 0.00421
NM_001372051.1(CASP8):c.339C>T (p.Ser113=) rs17860422 0.00309
NM_001372051.1(CASP8):c.1304+12C>T rs375465590 0.00081
NM_001372051.1(CASP8):c.789A>G (p.Thr263=) rs35142591 0.00051
NM_001372051.1(CASP8):c.*927AT[6] rs397897264
NM_001372051.1(CASP8):c.853G>C (p.Asp285His) rs1045485

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