ClinVar Miner

List of variants reported as uncertain significance for type IV hypersensitivity disease by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000639.3(FASLG):c.451+7A>G rs201525996 0.00210
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_000639.3(FASLG):c.280T>G (p.Leu94Val) rs56302117 0.00033
NM_032977.4(CASP10):c.259C>T (p.Arg87Trp) rs551818122 0.00013
NM_006254.4(PRKCD):c.1260+7G>A rs374605708 0.00011
NM_001372051.1(CASP8):c.159G>A (p.Met53Ile) rs200261147 0.00006
NM_000043.6(FAS):c.413C>T (p.Thr138Ile) rs760912307 0.00002
NM_006254.4(PRKCD):c.889-9C>T rs782612523 0.00002
NM_033360.4(KRAS):c.112-5C>T rs376520586 0.00001
NM_032977.4(CASP10):c.1271C>T (p.Thr424Ile) rs1559309649

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