List of variants in gene PAX8 reported as likely pathogenic for thyroid hormone resistance syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_003466.4(PAX8):c.160A>T (p.Ser54Cys)	rs104893660
NM_003466.4(PAX8):c.203C>T (p.Thr68Ile)	rs1691155605
NM_003466.4(PAX8):c.205G>A (p.Gly69Ser)
NM_003466.4(PAX8):c.236C>T (p.Ser79Phe)	rs1691154033
NM_003466.4(PAX8):c.237dup (p.Lys80fs)	rs2104498488

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