ClinVar Miner

List of variants reported as pathogenic for congenital hypothyroidism by Baylor Genetics

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_001363711.2(DUOX2):c.1588A>T (p.Lys530Ter) rs180671269 0.00017
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302 0.00009
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_003235.5(TG):c.475C>T (p.Arg159Ter) rs759267330 0.00004
NM_001206744.2(TPO):c.1994G>A (p.Arg665Gln) rs140124953 0.00003
NM_000441.2(SLC26A4):c.1746del (p.Ala584fs) rs1241745103 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) rs1584331188
NM_000453.3(SLC5A5):c.1593C>G (p.Tyr531Ter) rs121909177
NM_001206744.2(TPO):c.214C>T (p.Gln72Ter) rs200273438
NM_001555.5(IGSF1):c.3550C>T (p.Arg1184Ter) rs1220996970
NM_003235.5(TG):c.8055G>A (p.Trp2685Ter) rs1852105706
NM_024077.5(SECISBP2):c.1089+2T>C

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