ClinVar Miner

List of variants reported as likely pathogenic for immune system disorder by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter) rs1603272191
NM_001430.5(EPAS1):c.1601C>T (p.Pro534Leu)
NM_001770.6(CD19):c.1198+2T>G rs1596718225
NM_014639.4(SKIC3):c.2578-7_2578-3del rs746874042

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