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

Minimum submission review status:		Collection method:
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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: 9

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HGVS	dbSNP	gnomAD frequency
NM_003466.4(PAX8):c.*187A>G	rs78802229	0.05117
NM_003466.4(PAX8):c.*627T>A	rs111411733	0.01952
NM_003466.4(PAX8):c.985T>C (p.Phe329Leu)	rs3188996	0.01628
NM_003466.4(PAX8):c.1317A>G (p.Ala439=)	rs368201100	0.00299
NM_003466.4(PAX8):c.404A>G (p.Lys135Arg)	rs190431939	0.00146
NM_003466.4(PAX8):c.215G>A (p.Arg72Gln)	rs769138605	0.00032
NM_003466.4(PAX8):c.1242C>T (p.Ser414=)	rs200817352	0.00029
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser)	rs374652916	0.00006
NM_003466.4(PAX8):c.1139C>T (p.Thr380Ile)	rs987647241	0.00001

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