ClinVar Miner

List of variants in gene TTC21B reported as uncertain significance for Jeune thoracic dystrophy

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_024753.4(TTC21B):c.-91T>C rs772121352 0.00096
NM_024753.4(TTC21B):c.-107C>T rs545898884 0.00091
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802 0.00041
NM_024753.4(TTC21B):c.-94C>T rs563836188 0.00021
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00006
NM_024753.4(TTC21B):c.-89C>G rs868157832 0.00004
NM_024753.4(TTC21B):c.-75A>C rs886055032
NM_024753.4(TTC21B):c.-82C>G rs543599575
NM_024753.5(TTC21B):c.*1123dup rs886055020
NM_024753.5(TTC21B):c.95G>A (p.Arg32Lys) rs886055028

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