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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFHC1
Single nucleotide variant
(non-coding transcript variant +1 more)
Absence seizure
+1 more
GBenign
EFHC1
(R294H +1 more)
Single nucleotide variant
(missense variant +1 more)
Absence seizure
+3 more
GBenign