ClinVar Miner

List of variants reported as benign for congenital hypothyroidism by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001363711.2(DUOX2):c.3515+15T>A rs269869 0.99253
NM_000549.5(TSHB):c.40A>G (p.Thr14Ala) rs10776792 0.97659
NM_001555.5(IGSF1):c.948G>A (p.Val316=) rs5932877 0.91610
NM_203395.3(IYD):c.687+1305T>C rs612421 0.91223
NM_207581.4(DUOXA2):c.298C>G (p.Arg100Gly) rs2576090 0.86315
NM_207581.4(DUOXA2):c.554+6T>C rs2576092 0.77669
NM_001363711.2(DUOX2):c.413C>T (p.Pro138Leu) rs2001616 0.75375
NM_001363711.2(DUOX2):c.3200C>T (p.Ser1067Leu) rs269868 0.71631
NM_207581.4(DUOXA2):c.555-18C>T rs955152 0.69516
NM_207581.4(DUOXA2):c.341-15C>T rs2252371 0.69439
NM_001206744.2(TPO):c.1193G>C (p.Ser398Thr) rs2175977 0.65696
NM_001206744.2(TPO):c.2540T>C (p.Val847Ala) rs1126799 0.62508
NM_001555.5(IGSF1):c.1347A>G (p.Glu449=) rs1128617 0.48301
NM_001206744.2(TPO):c.2173A>C (p.Thr725Pro) rs732609 0.46998
NM_001206744.2(TPO):c.1117G>T (p.Ala373Ser) rs2280132 0.43513
NM_001206744.2(TPO):c.2145C>T (p.Pro715=) rs732608 0.41037
NM_001555.5(IGSF1):c.2556T>C (p.Tyr852=) rs4830219 0.36154
NM_001206744.2(TPO):c.1998C>T (p.Asp666=) rs1126797 0.35994
NM_000453.3(SLC5A5):c.1652-9G>A rs4808708 0.18985
NM_001206744.2(TPO):c.12C>G (p.Leu4=) rs9678281
NM_001206744.2(TPO):c.769G>T (p.Ala257Ser) rs4927611
NM_001363711.2(DUOX2):c.1461G>C (p.Gly487=) rs269860
NM_207581.4(DUOXA2):c.341-4A>G rs2554459

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