ClinVar Miner

List of variants in gene combination NR1D1, THRA reported as uncertain significance for Congenital nongoitrous hypothyroidism 6

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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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

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