ClinVar Miner

List of variants studied for congenital hypothyroidism by Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.6791G>A (p.Cys2264Tyr) rs1229345000 0.00004
NM_207581.4(DUOXA2):c.604G>A (p.Ala202Thr) rs770148072 0.00002
NM_000369.5(TSHR):c.1960A>T (p.Ile654Phe) rs767239688 0.00001
NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala) rs769796932 0.00001
NM_001363711.2(DUOX2):c.3115C>T (p.Arg1039Trp) rs752176935 0.00001
NM_003235.5(TG):c.48G>A (p.Trp16Ter) rs780846892 0.00001
NM_000369.5(TSHR):c.545+5G>T rs1888838395
NM_000453.3(SLC5A5):c.794A>G (p.Gln265Arg) rs2094311069
NM_001363711.2(DUOX2):c.4080G>T (p.Lys1360Asn) rs374891282
NM_001363711.2(DUOX2):c.989T>G (p.Val330Gly) rs778178479
NM_003466.4(PAX8):c.203C>T (p.Thr68Ile) rs1691155605
NM_003466.4(PAX8):c.236C>T (p.Ser79Phe) rs1691154033
NM_003466.4(PAX8):c.457_458del (p.Leu153fs) rs1690965885
NM_207581.4(DUOXA2):c.501C>A (p.Cys167Ter) rs781126484

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