ClinVar Miner

List of variants studied for hypothyroidism, congenital, nongoitrous by Revvity Omics, Revvity

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000549.5(TSHB):c.373del (p.Cys125fs) rs755485552 0.00017
NM_003466.4(PAX8):c.346G>A (p.Val116Ile) rs764623767 0.00012
NM_000549.5(TSHB):c.205C>T (p.Gln69Ter) rs121918670 0.00002
NM_003466.4(PAX8):c.754C>G (p.Pro252Ala) rs768835143 0.00002
NM_003466.4(PAX8):c.1189G>A (p.Gly397Arg)
NM_003466.4(PAX8):c.670C>T (p.Arg224Cys)
NM_199334.5(THRA):c.788C>T (p.Ala263Val) rs1555545033

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