ClinVar Miner

List of variants reported as likely pathogenic for immune system disorder by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NR_023343.3(RNU4ATAC):n.48G>A rs863225422 0.00005
NR_023343.3(RNU4ATAC):n.124G>A rs544312701 0.00004
NM_000043.6(FAS):c.197-2A>G rs1564691414
NM_002875.5(RAD51):c.772G>A (p.Glu258Lys) rs1555429629
NR_023343.3(RNU4ATAC):n.116A>G rs982261295

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