ClinVar Miner

List of variants in gene TTC21B reported as likely benign for Joubert syndrome

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_024753.5(TTC21B):c.*105G>A rs74548052
NM_024753.5(TTC21B):c.*1105G>T rs6756388
NM_024753.5(TTC21B):c.*517G>A rs77199262
NM_024753.5(TTC21B):c.*531A>G rs56115495
NM_024753.5(TTC21B):c.*878A>G rs62177807
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649
NM_024753.5(TTC21B):c.2211+13A>G rs73969727
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646

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