List of variants in gene combination LOC126806316, PAX8 reported as uncertain significance for hypothyroidism, congenital, nongoitrous

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_003466.4(PAX8):c.700G>A (p.Glu234Lys)	rs201093713	0.00024
NM_003466.4(PAX8):c.602G>A (p.Ser201Asn)	rs202183277	0.00004
NM_003466.4(PAX8):c.754C>G (p.Pro252Ala)	rs768835143	0.00002
NM_003466.4(PAX8):c.501C>A (p.Pro167=)	rs61730086	0.00001
NM_003466.4(PAX8):c.591A>C (p.Lys197Asn)
NM_003466.4(PAX8):c.670C>T (p.Arg224Cys)
NM_003466.4(PAX8):c.704C>T (p.Pro235Leu)	rs200737496
NM_003466.4(PAX8):c.777G>C (p.Gln259His)	rs1395652316

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