ClinVar Miner

List of variants in gene FOXI1 studied for congenital hypothyroidism

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_012188.5(FOXI1):c.231C>G (p.Pro77=) rs550209761 0.00051
NM_012188.5(FOXI1):c.1088G>T (p.Ser363Ile) rs150705492 0.00031
NM_012188.5(FOXI1):c.1090G>A (p.Val364Ile) rs201090454 0.00022
NM_012188.5(FOXI1):c.823G>A (p.Ala275Thr) rs145129881 0.00021
NM_012188.5(FOXI1):c.1013C>T (p.Ala338Val) rs367809742 0.00020
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) rs121909340 0.00005
NM_012188.5(FOXI1):c.545A>G (p.Lys182Arg) rs772882906 0.00003
NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln) rs121909341 0.00003
NM_012188.5(FOXI1):c.937G>C (p.Gly313Arg) rs755810719 0.00002
NM_012188.5(FOXI1):c.-18G>A rs764490860 0.00001
NM_012188.5(FOXI1):c.763G>A (p.Ala255Thr) rs951259617 0.00001
NM_012188.5(FOXI1):c.307G>T (p.Gly103Trp) rs1053809070
NM_012188.5(FOXI1):c.965_967del (p.Phe322del) rs886060400

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