List of variants reported as likely benign for thyroid hormone resistance syndrome

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_003466.4(PAX8):c.*187A>G	rs78802229	0.05117
NM_003466.4(PAX8):c.*627T>A	rs111411733	0.01952
NM_003466.4(PAX8):c.985T>C (p.Phe329Leu)	rs3188996	0.01628
NM_001354712.2(THRB):c.*4611del	rs147687234	0.01502
NM_003466.4(PAX8):c.1317A>G (p.Ala439=)	rs368201100	0.00299
NM_003466.4(PAX8):c.404A>G (p.Lys135Arg)	rs190431939	0.00146
NM_001354712.2(THRB):c.*1372C>A	rs147542176	0.00081
NM_001354712.2(THRB):c.1125C>T (p.Ala375=)	rs148991421	0.00033
NM_003466.4(PAX8):c.215G>A (p.Arg72Gln)	rs769138605	0.00032
NM_003466.4(PAX8):c.1242C>T (p.Ser414=)	rs200817352	0.00029
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=)	rs374150672	0.00023
NM_001354712.2(THRB):c.213C>A (p.Asp71Glu)	rs141495471	0.00016
NM_001354712.2(THRB):c.283+12T>C	rs372413180	0.00013
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr)	rs368366482	0.00013
NM_001354712.2(THRB):c.1053C>T (p.Asp351=)	rs115445992	0.00011
NM_001354712.2(THRB):c.*4714T>C	rs577889185	0.00009
NM_001354712.2(THRB):c.68G>A (p.Arg23Gln)	rs200124942	0.00009
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser)	rs374652916	0.00006
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=)	rs754229011	0.00006
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=)	rs376792087	0.00006
NM_001354712.2(THRB):c.175A>G (p.Ile59Val)	rs141172732	0.00003
NM_001354712.2(THRB):c.*1861A>G	rs529916834	0.00002
NM_003466.4(PAX8):c.709G>C (p.Glu237Gln)	rs199890664	0.00002
NM_003466.4(PAX8):c.1139C>T (p.Thr380Ile)	rs987647241	0.00001
NM_001354712.2(THRB):c.*1750del	rs147125300
NM_001354712.2(THRB):c.*1776dup	rs536659624
NM_001354712.2(THRB):c.*2572ATTG[3]	rs144580659
NM_001354712.2(THRB):c.*3324dup	rs35554555
NM_001354712.2(THRB):c.*570dup	rs569875966
NM_001354712.2(THRB):c.*900del	rs373141874

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