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

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_003466.4(PAX8):c.101T>A (p.Ile34Asn)	rs1691361089
NM_003466.4(PAX8):c.119A>C (p.Gln40Pro)	rs104893656
NM_003466.4(PAX8):c.143C>T (p.Ser48Phe)	rs121917719
NM_003466.4(PAX8):c.160A>G (p.Ser54Gly)	rs104893660
NM_003466.4(PAX8):c.170G>A (p.Cys57Tyr)	rs104893659
NM_003466.4(PAX8):c.185T>G (p.Leu62Arg)	rs104893658
NM_003466.4(PAX8):c.322C>T (p.Arg108Ter)	rs104893655
NM_003466.4(PAX8):c.397C>T (p.Arg133Trp)	rs1690970101
NM_003466.4(PAX8):c.457_458del (p.Leu153fs)	rs1690965885
NM_003466.4(PAX8):c.92G>A (p.Arg31His)	rs104893657

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