ClinVar Miner

List of variants reported as likely pathogenic for hypothyroidism, congenital, nongoitrous by Illumina Laboratory Services, Illumina

Included ClinVar conditions (10):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter)	rs121918670	0.00002
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr)	rs121908872
NM_003466.4(PAX8):c.205G>A (p.Gly69Ser)

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