ClinVar Miner

List of variants in gene OTUD6B studied for syndromic intellectual disability

Included ClinVar conditions (203):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_016023.5(OTUD6B):c.316-11G>C rs11786324 0.62291
NM_016023.5(OTUD6B):c.141A>G (p.Gln47=) rs11557571 0.48470
NM_016023.5(OTUD6B):c.658G>A (p.Val220Ile) rs143121527 0.00169
NM_016023.5(OTUD6B):c.-15G>A rs186307892 0.00131
NM_016023.5(OTUD6B):c.-39A>G rs199542428 0.00119
NM_016023.5(OTUD6B):c.389C>A (p.Ala130Asp) rs143832637 0.00116
NM_016023.5(OTUD6B):c.686T>C (p.Leu229Pro) rs150848976 0.00016
NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter) rs368313959 0.00011
NM_016023.5(OTUD6B):c.839C>T (p.Ser280Leu) rs1391158579 0.00001
NM_016023.5(OTUD6B):c.189T>G (p.His63Gln)
NM_016023.5(OTUD6B):c.189_190del (p.His63fs) rs779499353
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs) rs748735420
NM_016023.5(OTUD6B):c.316-1622G>A
NM_016023.5(OTUD6B):c.326C>G (p.Ala109Gly)
NM_016023.5(OTUD6B):c.379_383del (p.Leu127fs) rs759317757
NM_016023.5(OTUD6B):c.381_388del (p.Leu127fs)
NM_016023.5(OTUD6B):c.401A>G (p.Glu134Gly)
NM_016023.5(OTUD6B):c.479A>G (p.Tyr160Cys)
NM_016023.5(OTUD6B):c.481A>T (p.Lys161Ter) rs767217536
NM_016023.5(OTUD6B):c.527_528del (p.Val176fs) rs1472577530
NM_016023.5(OTUD6B):c.550G>A (p.Ala184Thr) rs771021419
NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys) rs1064797103
NM_016023.5(OTUD6B):c.631G>T (p.Glu211Ter) rs772032719
NM_016023.5(OTUD6B):c.677G>T (p.Gly226Val) rs2130440842
NM_016023.5(OTUD6B):c.691C>G (p.Leu231Val)
NM_016023.5(OTUD6B):c.692T>C (p.Leu231Pro)
NM_016023.5(OTUD6B):c.731T>G (p.Ile244Arg) rs2130446714
NM_016023.5(OTUD6B):c.776C>A (p.Ser259Ter)
NM_016023.5(OTUD6B):c.83-1del
NM_016023.5(OTUD6B):c.83-2A>G rs1064797102

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