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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CD70
(F186del)
Microsatellite
(inframe_deletion +1 more)
Severe combined immunodeficiency due to CD70 deficiency
GPathogenic
CD70
(S84fs)
Deletion
(frameshift variant)
Severe combined immunodeficiency due to CD70 deficiency
GPathogenic
CD70
(R179*)
Single nucleotide variant
(nonsense +1 more)
Severe combined immunodeficiency due to CD70 deficiency
GPathogenic
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