ClinVar Miner

List of variants studied for hypothyroidism, congenital, nongoitrous by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter) rs121908866 0.00021
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala) rs121908863 0.00010
NM_000369.5(TSHR):c.326G>A (p.Arg109Gln) rs121908865 0.00001
NM_000369.5(TSHR):c.1348del (p.Arg450fs)
NM_000369.5(TSHR):c.1582C>T (p.Arg528Cys)
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000369.5(TSHR):c.1957C>G (p.Leu653Val)
NM_000369.5(TSHR):c.823G>A (p.Ala275Thr)
NM_000549.5(TSHB):c.145G>A (p.Gly49Arg) rs121918668

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