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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRPM6
(Y474* +1 more)
Single nucleotide variant
(nonsense)
Intestinal hypomagnesemia 1
GPathogenic
TRPM6
(D247E +1 more)
Single nucleotide variant
(missense variant)
Intestinal hypomagnesemia 1
GLikely pathogenic