ClinVar Miner

List of variants in gene THRA studied for congenital nongoitrous hypothryoidism 6

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_199334.5(THRA):c.54-1G>A rs199530759 0.00008
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.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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