ClinVar Miner

List of variants in gene FOXI1 studied for Pendred syndrome

Included ClinVar conditions (3):
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Gene type:
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Total variants: 30
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HGVS dbSNP
NM_012188.5(FOXI1):c.*119C>A rs6873124
NM_012188.5(FOXI1):c.*176G>T rs151161274
NM_012188.5(FOXI1):c.*397A>T rs886060401
NM_012188.5(FOXI1):c.*418T>C rs886060402
NM_012188.5(FOXI1):c.*440G>A rs6555887
NM_012188.5(FOXI1):c.*486C>T rs886060403
NM_012188.5(FOXI1):c.*535A>G rs6555888
NM_012188.5(FOXI1):c.*576T>A rs550861326
NM_012188.5(FOXI1):c.*707C>T rs886060404
NM_012188.5(FOXI1):c.*938dup rs3839285
NM_012188.5(FOXI1):c.*986G>C rs111876035
NM_012188.5(FOXI1):c.-18G>A rs764490860
NM_012188.5(FOXI1):c.1013C>T (p.Ala338Val) rs367809742
NM_012188.5(FOXI1):c.1044T>C (p.Tyr348=) rs10063424
NM_012188.5(FOXI1):c.1088G>T (p.Ser363Ile) rs150705492
NM_012188.5(FOXI1):c.279G>A (p.Arg93=) rs2277944
NM_012188.5(FOXI1):c.308G>C (p.Gly103Ala) rs370450076
NM_012188.5(FOXI1):c.30C>T (p.Ser10=) rs137901435
NM_012188.5(FOXI1):c.318C>G (p.Asp106Glu) rs114293092
NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu) rs553561553
NM_012188.5(FOXI1):c.568G>C (p.Asp190His) rs886060398
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) rs121909340
NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln) rs121909341
NM_012188.5(FOXI1):c.822C>T (p.Gly274=) rs149203108
NM_012188.5(FOXI1):c.825C>T (p.Ala275=) rs147596900
NM_012188.5(FOXI1):c.861C>G (p.Ala287=) rs145785746
NM_012188.5(FOXI1):c.938G>A (p.Gly313Glu) rs886060399
NM_012188.5(FOXI1):c.965_967del (p.Phe322del) rs886060400
NM_012188.5(FOXI1):c.972G>C (p.Pro324=) rs56128152
NM_012188.5(FOXI1):c.997G>A (p.Gly333Ser) rs145046338

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