ClinVar Miner

List of variants in gene TTC21B studied for Jeune thoracic dystrophy

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Total variants: 16
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HGVS dbSNP
NM_024753.4(TTC21B):c.-107C>T rs545898884
NM_024753.4(TTC21B):c.-145G>A rs111867313
NM_024753.4(TTC21B):c.-75A>C rs886055032
NM_024753.4(TTC21B):c.-82C>G rs543599575
NM_024753.4(TTC21B):c.-89C>G rs868157832
NM_024753.4(TTC21B):c.-91T>C rs772121352
NM_024753.4(TTC21B):c.-94C>T rs563836188
NM_024753.5(TTC21B):c.*1123dup rs886055020
NM_024753.5(TTC21B):c.1397C>A (p.Pro466His) rs1453462442
NM_024753.5(TTC21B):c.1495G>A (p.Ala499Thr) rs866222900
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249
NM_024753.5(TTC21B):c.684G>A (p.Trp228Ter) rs777162250
NM_024753.5(TTC21B):c.703G>C (p.Ala235Pro) rs150742619
NM_024753.5(TTC21B):c.95G>A (p.Arg32Lys) rs886055028

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