ClinVar Miner

List of variants reported as benign for hypothyroidism, congenital, nongoitrous by Genome-Nilou Lab

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000549.5(TSHB):c.40A>G (p.Thr14Ala) rs10776792 0.97659
NM_000369.5(TSHR):c.2181G>C (p.Glu727Asp) rs1991517 0.90865
NM_000369.5(TSHR):c.692+163A>G rs3783942 0.63598
NM_000369.5(TSHR):c.692+209C>A rs3783941 0.62312
NM_005647.4(TBL1X):c.892-24G>T rs3747430 0.46891
NM_003466.4(PAX8):c.25+24T>C rs1867763 0.38004
NM_001379150.1(IRS4):c.63G>A (p.Ala21=) rs2073114 0.37714
NM_005647.4(TBL1X):c.1054-41C>A rs2239411 0.34639
NM_000369.5(TSHR):c.154C>A (p.Pro52Thr) rs2234919 0.04384
NM_000369.5(TSHR):c.692+49T>C rs28636074 0.01441
NM_000369.5(TSHR):c.692+48T>A rs28516678
NM_001379150.1(IRS4):c.2635C>G (p.His879Asp) rs1801164
NM_003466.4(PAX8):c.479-29C>A rs13015478
NM_005647.4(TBL1X):c.749+15G>A rs2301675
NM_005647.4(TBL1X):c.749+22dup rs3214138

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