ClinVar Miner

List of variants studied for hyperthyroxinemia by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000477.7(ALB):c.725G>A (p.Arg242His) rs75002628 0.00008
NM_000371.4(TTR):c.385G>A (p.Ala129Thr) rs267607159 0.00005
NM_000371.4(TTR):c.386C>T (p.Ala129Val) rs121918092 0.00004
NM_000477.7(ALB):c.269T>C (p.Leu90Pro) rs77892378
NM_000477.7(ALB):c.725G>C (p.Arg242Pro) rs75002628

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