ClinVar Miner

List of variants reported as uncertain significance for congenital hypothyroidism by Baylor Genetics

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.848G>A (p.Arg283Gln) rs146926250 0.00073
NM_003235.5(TG):c.958C>T (p.Arg320Cys) rs138561283 0.00042
NM_199334.5(THRA):c.54-1G>A rs199530759 0.00008
NM_001379150.1(IRS4):c.3215C>T (p.Ala1072Val) rs148098273 0.00006
NM_001206744.2(TPO):c.1312C>T (p.Arg438Cys) rs768830989 0.00002
NM_003466.4(PAX8):c.1277-10A>G rs893315047 0.00002
NM_003235.5(TG):c.2276A>G (p.Tyr759Cys) rs766295732 0.00001
NM_003235.5(TG):c.3176T>C (p.Ile1059Thr) rs1016185504 0.00001
NM_003235.5(TG):c.6988G>A (p.Val2330Met) rs752587385 0.00001
NM_000369.5(TSHR):c.1270G>A (p.Val424Ile) rs587778742
NM_000441.2(SLC26A4):c.515A>G (p.Asn172Ser) rs779996743
NM_000441.2(SLC26A4):c.765+4A>T rs774353111
NM_001206744.2(TPO):c.2299T>C (p.Ser767Pro) rs1672384154
NM_001363711.2(DUOX2):c.4097C>T (p.Pro1366Leu)
NM_003235.5(TG):c.2639C>T (p.Pro880Leu) rs201893722
NM_003235.5(TG):c.7220T>C (p.Phe2407Ser)
NM_003235.5(TG):c.7663C>T (p.Arg2555Cys) rs370013278
NM_003466.4(PAX8):c.777G>C (p.Gln259His) rs1395652316
NM_024077.5(SECISBP2):c.137C>G (p.Ser46Cys) rs1027713548

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