ClinVar Miner

List of variants in gene PAX8 reported as benign for congenital hypothyroidism

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_003466.4(PAX8):c.*2309A>G rs1077855 0.75160
NM_003466.4(PAX8):c.*2478C>T rs2019137 0.41441
NM_003466.4(PAX8):c.*2146A>G rs895412 0.41369
NM_003466.4(PAX8):c.25+24T>C rs1867763 0.38004
NM_003466.4(PAX8):c.*1914C>G rs874898 0.32930
NM_003466.4(PAX8):c.*1006A>C rs1479 0.29017
NM_003466.4(PAX8):c.*1044A>C rs1478 0.28084
NM_003466.4(PAX8):c.*1000T>C rs1049137 0.18892
NM_003466.4(PAX8):c.1143C>T (p.Ser381=) rs145036350 0.00516
NM_003466.4(PAX8):c.479-29C>A rs13015478

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