ClinVar Miner

List of variants studied for Hypothyroidism, congenital, nongoitrous, 7 by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003301.7(TRHR):c.49C>T (p.Arg17Ter) rs121917847 0.00003
NM_003301.7(TRHR):c.392T>C (p.Ile131Thr) rs771222349 0.00001
NM_003301.7(TRHR):c.242C>G (p.Pro81Arg) rs1586182837
NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr) rs1586182912

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