ClinVar Miner

List of variants reported as likely benign for thyroid hormone resistance syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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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.1242C>T (p.Ser414=) rs200817352 0.00029
NM_001354712.2(THRB):c.213C>A (p.Asp71Glu) rs141495471 0.00016
NM_001354712.2(THRB):c.283+12T>C rs372413180 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_001354712.2(THRB):c.*1861A>G rs529916834 0.00002
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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