List of variants reported as pathogenic for hyperthyroxinemia by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile)	rs76992529	0.00501
NM_000371.4(TTR):c.148G>A (p.Val50Met)	rs28933979	0.00004
NM_000371.4(TTR):c.349G>T (p.Ala117Ser)	rs267607161	0.00001
NM_000371.4(TTR):c.250T>C (p.Phe84Leu)	rs121918091
NM_000371.4(TTR):c.379A>G (p.Ile127Val)	rs121918089

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