ClinVar Miner

List of variants reported as uncertain significance for autoimmune thyroid disease, susceptibility to, 3 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00070
NM_003235.5(TG):c.848G>A (p.Arg283Gln) rs146926250 0.00068
NM_003235.5(TG):c.455G>A (p.Arg152His) rs114781869 0.00059
NM_003235.5(TG):c.4481C>T (p.Pro1494Leu) rs146498231 0.00053
NM_003235.5(TG):c.6001G>A (p.Asp2001Asn) rs199923962 0.00037
NM_003235.5(TG):c.993G>C (p.Gln331His) rs61745783 0.00027
NM_003235.5(TG):c.1020C>T (p.Asp340=) rs138114586 0.00020
NM_003235.5(TG):c.2560C>T (p.Arg854Trp) rs202196940 0.00016
NM_003235.5(TG):c.3149G>T (p.Trp1050Leu) rs142124591 0.00014
NM_003235.5(TG):c.4982G>A (p.Arg1661His) rs115509019 0.00013
NM_003235.5(TG):c.4604A>G (p.Asp1535Gly) rs762221625 0.00006
NM_003235.5(TG):c.2762-4C>T rs372101475 0.00004
NM_003235.5(TG):c.925A>G (p.Thr309Ala) rs199712883 0.00002
NM_003235.5(TG):c.385G>A (p.Val129Ile) rs115677932 0.00001
NM_003235.5(TG):c.3040G>C (p.Asp1014His) rs114772213
NM_003235.5(TG):c.6131G>T (p.Arg2044Leu) rs573866267
NM_003235.5(TG):c.7363C>T (p.Arg2455Cys) rs201444172

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