List of variants reported as pathogenic for congenital nongoitrous hypothryoidism 6

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_021724.5(NR1D1):c.1646-42dup	rs2145097039
NM_199334.5(THRA):c.1110G>C (p.Lys370Asn)	rs137853163
NM_199334.5(THRA):c.1176C>A (p.Cys392Ter)	rs876657394
NM_199334.5(THRA):c.1193C>G (p.Pro398Arg)	rs876657396
NM_199334.5(THRA):c.1207G>A (p.Glu403Lys)	rs876657395
NM_199334.5(THRA):c.134G>T (p.Ser45Ile)	rs137853162

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