ClinVar Miner

List of variants studied for thyroid gland disorder by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_001555.5(IGSF1):c.2407dup (p.His803fs) rs1603404297
NM_003250.6(THRA):c.1416dup (p.Ser473fs) rs2145097039
NM_177438.3(DICER1):c.2685dup (p.Phe896fs) rs1891565957

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