ClinVar Miner

List of variants reported as pathogenic for hypothyroidism, congenital, nongoitrous by Revvity Omics, Revvity

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000549.5(TSHB):c.373del (p.Cys125fs)	rs755485552	0.00017
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter)	rs121918670	0.00002

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