ClinVar Miner

List of variants reported as pathogenic for agammaglobulinemia 2, autosomal recessive

Included ClinVar conditions (1):

Agammaglobulinemia 2, autosomal recessive

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu)	rs1064422	0.00104
NM_020070.4(IGLL1):c.64C>T (p.Gln22Ter)	rs74315491	0.00001
NM_020070.4(IGLL1):c.258del (p.Gln88fs)	rs532338576

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