C4511136[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12682	NM_003301.7(TRHR):c.49C>T (p.Arg17Ter)	TRHR (R17*)	Single nucleotide variant (nonsense)	Hypothyroidism, congenital, nongoitrous, 7	GPathogenic
Select item 689395	NM_003301.7(TRHR):c.242C>G (p.Pro81Arg)	TRHR (P81R)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 7	GLikely pathogenic
Select item 12681	NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr)	TRHR	Indel (inframe_indel)	Hypothyroidism, congenital, nongoitrous, 7	GLikely pathogenic

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