ClinVar Miner

List of variants in gene NR1D1, THRA studied for Congenital nongoitrous hypothyroidism 6

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001190918.2(THRA):c.1249C>T (p.Arg417Ter)	rs201037953	0.00001
NM_001190919.2(THRA):c.1130C>T (p.Ser377Leu)	rs137853164
NM_003250.6(THRA):c.1416dup (p.Ser473fs)	rs2145097039

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