ClinVar Miner

List of variants studied for thyroid hormone resistance syndrome by New York Genome Center

Included ClinVar conditions (11):

Atrial septal defect 7; Conotruncal heart malformations; Hypothyroidism, congenital, nongoitrous, 5; Tetralogy of Fallot; Ventricular septal defect 3; Hypoplastic left heart syndrome 2
Ectopic thyroid
Generalized resistance to thyroid hormone
Hypothyroidism, congenital, nongoitrous, 2
Hypothyroidism, congenital, nongoitrous, 5
Selective pituitary resistance to thyroid hormone
Selective pituitary resistance to thyroid hormone; Thyroid hormone resistance, generalized, autosomal dominant; Thyroid hormone resistance, generalized, autosomal recessive
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_001354712.2(THRB):c.-261+65743G>A	rs1054051271	0.00001
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr)	rs759518211

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