List of variants studied for Congenital nongoitrous hypothyroidism 6

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_199334.5(THRA):c.54-1G>A	rs199530759	0.00008
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
NM_199334.5(THRA):c.1110G>C (p.Lys370Asn)	rs137853163
NM_199334.5(THRA):c.1141C>T (p.His381Tyr)
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.121+1G>A
NM_199334.5(THRA):c.134G>T (p.Ser45Ile)	rs137853162
NM_199334.5(THRA):c.425G>T (p.Arg142Leu)	rs1598396222
NM_199334.5(THRA):c.518A>G (p.Glu173Gly)	rs1987264133
NM_199334.5(THRA):c.788C>T (p.Ala263Val)	rs1555545033
NM_199334.5(THRA):c.818C>A (p.Thr273Asn)	rs2145085082
NM_199334.5(THRA):c.896T>C (p.Ile299Thr)

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