ClinVar Miner

List of variants studied for hypothyroidism, congenital, nongoitrous by SIB Swiss Institute of Bioinformatics

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_003301.7(TRHR):c.49C>T (p.Arg17Ter) rs121917847 0.00003
NM_003301.7(TRHR):c.242C>G (p.Pro81Arg) rs1586182837
NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr) rs1586182912
NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter) rs1601844140
NM_005647.4(TBL1X):c.1246A>T (p.Asn416Tyr) rs1601855785
NM_005647.4(TBL1X):c.1249G>A (p.Ala417Thr) rs2083229730
NM_005647.4(TBL1X):c.1258T>C (p.Trp420Arg) rs2083229757
NM_005647.4(TBL1X):c.1510C>T (p.His504Tyr) rs1601857538
NM_005647.4(TBL1X):c.1526A>G (p.Tyr509Cys) rs1601857555

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