ClinVar Miner

List of variants reported as likely benign for congenital hypothyroidism by Leiden Open Variation Database

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001018113.3(FANCB):c.2166-176A>G rs6527026 0.99693
NM_001018113.3(FANCB):c.2166-186T>C rs6527027 0.98887
NM_001018113.3(FANCB):c.951+129A>C rs2375729 0.63356
NM_001018113.3(FANCB):c.-173G>C rs2188383 0.63320
NM_001018113.3(FANCB):c.-70-246C>T rs5935816 0.55158
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_000136.3(FANCC):c.996+1752A>G rs881791 0.45786
NM_000136.3(FANCC):c.996+1056C>A rs879559

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