ClinVar Miner

List of variants studied for inherited thyroid metabolism disease by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (20):

Atrial septal defect 7; Conotruncal heart malformations; Hypothyroidism, congenital, nongoitrous, 5; Tetralogy of Fallot; Ventricular septal defect 3; Hypoplastic left heart syndrome 2
Deficiency of iodide peroxidase
Ectopic thyroid
Familial thyroid dyshormonogenesis
Generalized resistance to thyroid hormone
Hypothyroidism, congenital, nongoitrous, 2
Hypothyroidism, congenital, nongoitrous, 5
Iodotyrosine deiodination defect
Iodotyrosyl coupling defect
Iodotyrosyl coupling defect; Autoimmune thyroid disease, susceptibility to, 3
Selective pituitary resistance to thyroid hormone
Selective pituitary resistance to thyroid hormone; Thyroid hormone resistance, generalized, autosomal dominant; Thyroid hormone resistance, generalized, autosomal recessive
Thyroglobulin synthesis defect
Thyroid dyshormonogenesis
Thyroid dyshormonogenesis 1
Thyroid dyshormonogenesis 6
Thyroid hemiagenesis
Thyroid hormone resistance syndrome
Thyroid hormone resistance, generalized, autosomal dominant
Thyroid hormone resistance, generalized, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001363711.2(DUOX2):c.3449A>G (p.Tyr1150Cys)	rs200000982	0.00006
NM_207581.4(DUOXA2):c.414C>G (p.Tyr138Ter)	rs1555415049

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