ClinVar Miner

List of variants reported as uncertain significance for immune system disorder by Laboratorio de Biologia Molecular - Genetica, Hospital de Pediatria Garrahan

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002880.4(RAF1):c.1467G>C (p.Leu489Phe) rs1553610155
NM_006767.4(LZTR1):c.209A>T (p.Lys70Met)
NM_006767.4(LZTR1):c.2245T>C (p.Tyr749His) rs1601723615
NM_006767.4(LZTR1):c.360C>A (p.His120Gln) rs1249605552

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