ClinVar Miner

List of variants reported as likely benign for Pendred syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000441.1(SLC26A4):c.-66C>G rs17154282
NM_000441.2(SLC26A4):c.*1797G>C rs76820337
NM_000441.2(SLC26A4):c.*868G>A rs2712218
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335
NM_002241.5(KCNJ10):c.*1970_*1971GT[23] rs56656397
NM_002241.5(KCNJ10):c.*2062T>G rs1053074
NM_012188.5(FOXI1):c.*119C>A rs6873124
NM_012188.5(FOXI1):c.*535A>G rs6555888
NM_012188.5(FOXI1):c.*938dup rs3839285
NM_012188.5(FOXI1):c.279G>A (p.Arg93=) rs2277944

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