ClinVar Miner

List of variants in gene PAX8 studied for Congenital hypothyroidism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003466.4(PAX8):c.2503_2504dup	rs751887254
NM_003466.4(PAX8):c.101T>A (p.Ile34Asn)	rs1691361089
NM_003466.4(PAX8):c.397C>T (p.Arg133Trp)	rs1690970101

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