ClinVar Miner

List of variants in gene TTC21B studied for Joubert syndrome

Included ClinVar conditions (58):
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Gene type:
ClinVar version:
Total variants: 78
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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.*105G>A rs74548052
NM_024753.5(TTC21B):c.*1087A>T rs150328867
NM_024753.5(TTC21B):c.*1105G>T rs6756388
NM_024753.5(TTC21B):c.*1123dup rs886055020
NM_024753.5(TTC21B):c.*246G>A rs759810831
NM_024753.5(TTC21B):c.*419C>A rs886055024
NM_024753.5(TTC21B):c.*451G>C rs886055023
NM_024753.5(TTC21B):c.*460T>C rs537286454
NM_024753.5(TTC21B):c.*473C>G rs763021259
NM_024753.5(TTC21B):c.*516C>T rs185578095
NM_024753.5(TTC21B):c.*517G>A rs77199262
NM_024753.5(TTC21B):c.*531A>G rs56115495
NM_024753.5(TTC21B):c.*540T>C rs534739269
NM_024753.5(TTC21B):c.*544A>G rs565605248
NM_024753.5(TTC21B):c.*593G>A rs886055022
NM_024753.5(TTC21B):c.*642C>T rs547612425
NM_024753.5(TTC21B):c.*656G>A rs180737925
NM_024753.5(TTC21B):c.*680C>T rs746664114
NM_024753.5(TTC21B):c.*730A>C rs886055021
NM_024753.5(TTC21B):c.*847A>C rs138656848
NM_024753.5(TTC21B):c.*878A>G rs62177807
NM_024753.5(TTC21B):c.*910C>T rs745335688
NM_024753.5(TTC21B):c.-16C>G rs886055030
NM_024753.5(TTC21B):c.-17C>T rs572065013
NM_024753.5(TTC21B):c.-18C>T rs187707893
NM_024753.5(TTC21B):c.-64G>A rs886055031
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.1448C>A (p.Thr483Asn) rs142887208
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg) rs748993825
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala) rs778812789
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538
NM_024753.5(TTC21B):c.1578T>C (p.Ala526=) rs573290536
NM_024753.5(TTC21B):c.1609T>C (p.Leu537=) rs200916824
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=) rs145926679
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044
NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln) rs377128320
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu) rs375721812
NM_024753.5(TTC21B):c.2100G>A (p.Lys700=) rs368202285
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588
NM_024753.5(TTC21B):c.2211+13A>G rs73969727
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) rs183367929
NM_024753.5(TTC21B):c.2259G>A (p.Pro753=) rs570679271
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.2472G>A (p.Leu824=) rs114725374
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989
NM_024753.5(TTC21B):c.2622T>G (p.Asp874Glu) rs886055026
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln) rs747246700
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) rs151227843
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn) rs146201603
NM_024753.5(TTC21B):c.2901C>G (p.Asp967Glu) rs886055025
NM_024753.5(TTC21B):c.3042A>G (p.Lys1014=) rs755454992
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.3873+10T>A rs779470575
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys) rs184586093
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly) rs147540469
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala) rs568969576
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273
NM_024753.5(TTC21B):c.63T>C (p.His21=) rs886055029
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004
NM_024753.5(TTC21B):c.793A>C (p.Lys265Gln) rs886055027
NM_024753.5(TTC21B):c.795+3A>G rs753275145
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646
NM_024753.5(TTC21B):c.95G>A (p.Arg32Lys) rs886055028

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