ClinVar Miner

List of variants reported as 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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000369.5(TSHR):c.1349G>A (p.Arg450His)	rs189261858	0.00023
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter)	rs121908866	0.00021

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