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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HRG, LOC126806897
(S76L)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GUncertain significance
HRG, LOC126806897
(F124fs)
Deletion
(frameshift variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GUncertain significance