ClinVar Miner

List of variants reported as uncertain significance for Congenital hypothyroidism by Illumina Laboratory Services, Illumina

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.314G>A (p.Gly105Glu) rs556820857 0.00017
NM_203395.3(IYD):c.*6375del rs886061184 0.00004
NM_000369.5(TSHR):c.*1742G>T rs886050861 0.00003
NM_001363711.2(DUOX2):c.944-10C>T rs756654827 0.00003
NM_000369.5(TSHR):c.*137del rs886050856
NM_001206744.2(TPO):c.*63dup rs749486726
NM_001206744.2(TPO):c.1566T>A (p.Ala522=) rs17091745
NM_001363711.2(DUOX2):c.3416-7C>G rs886051192
NM_003466.4(PAX8):c.*2503_*2504dup rs751887254
NM_203395.2(IYD):c.-104T>A rs886061163
NM_203395.3(IYD):c.*1382CT[3] rs886061172
NM_203395.3(IYD):c.*3405del rs770486449
NM_203395.3(IYD):c.*461del rs61597872
NM_203395.3(IYD):c.*5785dup rs761967547
NM_203395.3(IYD):c.*672_*673delinsTG rs374913437

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