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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRHR
(R17*)
Single nucleotide variant
(nonsense)
Hypothyroidism, congenital, nongoitrous, 7
GPathogenic
TRHR
(P81R)
Single nucleotide variant
(missense variant)
Hypothyroidism, congenital, nongoitrous, 7
GLikely pathogenic
TRHR
Indel
(inframe_indel)
Hypothyroidism, congenital, nongoitrous, 7
GLikely pathogenic
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