ClinVar Miner

List of variants studied for immune system disorder by Molecular Diagnosis for Inborn Errors of Immunity, Hospital de Pediatria Garrahan

Included ClinVar conditions (908):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_032415.7(CARD11):c.128C>G (p.Thr43Arg)
NM_032415.7(CARD11):c.286G>A (p.Glu96Lys)
NM_032415.7(CARD11):c.349A>C (p.Thr117Pro)
NM_032415.7(CARD11):c.367G>A (p.Gly123Ser) rs387907352
NM_032415.7(CARD11):c.547_588dup (p.Lys196_Val197insMetLysGluGluArgAspSerTyrAsnAspGluLeuValLys)
NM_032415.7(CARD11):c.715_732dup (p.Lys244_Leu245insMetGluGluGluCysLys)
NM_032415.7(CARD11):c.746A>C (p.Gln249Pro)
NM_032415.7(CARD11):c.88C>T (p.Arg30Trp) rs145474800

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