ClinVar Miner

List of variants in gene TTC21B studied for Nephronophthisis 12

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 137
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429 0.95088
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273 0.61903
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044 0.34586
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
NM_024753.5(TTC21B):c.*1105G>T rs6756388 0.23631
NM_024753.5(TTC21B):c.*517G>A rs77199262 0.16849
NM_024753.5(TTC21B):c.*531A>G rs56115495 0.16645
NM_024753.5(TTC21B):c.*878A>G rs62177807 0.11039
NM_024753.5(TTC21B):c.2211+13A>G rs73969727 0.04080
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649 0.01776
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831 0.01296
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646 0.01295
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=) rs73018799 0.01072
NM_024753.5(TTC21B):c.*974C>G rs145794135 0.01001
NM_024753.5(TTC21B):c.1965G>A (p.Arg655=) rs16822802 0.00798
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136 0.00617
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_024753.5(TTC21B):c.*1225C>T rs60399987 0.00424
NM_024753.5(TTC21B):c.*656G>A rs180737925 0.00376
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004 0.00356
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538 0.00355
NM_024753.5(TTC21B):c.-17C>T rs572065013 0.00252
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507 0.00235
NM_024753.5(TTC21B):c.*1087A>T rs150328867 0.00213
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly) rs149325238 0.00190
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265 0.00161
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu) rs375721812 0.00118
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374 0.00107
NM_024753.5(TTC21B):c.*460T>C rs537286454 0.00098
NM_024753.5(TTC21B):c.3874-14T>C rs200347449 0.00096
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) rs146320075 0.00063
NM_024753.5(TTC21B):c.*847A>C rs138656848 0.00058
NM_024753.5(TTC21B):c.3932G>A (p.Arg1311His) rs139327086 0.00056
NM_024753.5(TTC21B):c.3797C>T (p.Pro1266Leu) rs140384742 0.00054
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=) rs145926679 0.00050
NM_024753.5(TTC21B):c.880G>T (p.Ala294Ser) rs141240501 0.00048
NM_024753.5(TTC21B):c.*516C>T rs185578095 0.00047
NM_024753.5(TTC21B):c.2255A>G (p.Asn752Ser) rs148222901 0.00041
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) rs151227843 0.00036
NM_024753.5(TTC21B):c.3223G>C (p.Val1075Leu) rs34925776 0.00034
NM_024753.5(TTC21B):c.*473C>G rs763021259 0.00032
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly) rs147540469 0.00031
NM_024753.5(TTC21B):c.1563C>T (p.His521=) rs138294801 0.00028
NM_024753.5(TTC21B):c.2942G>A (p.Arg981His) rs142022626 0.00028
NM_024753.5(TTC21B):c.-24C>T rs554218980 0.00019
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) rs183367929 0.00019
NM_024753.5(TTC21B):c.-18C>T rs187707893 0.00018
NM_024753.5(TTC21B):c.1448C>A (p.Thr483Asn) rs142887208 0.00016
NM_024753.5(TTC21B):c.785A>T (p.Asp262Val) rs756913474 0.00016
NM_024753.5(TTC21B):c.*424A>G rs117664297 0.00011
NM_024753.5(TTC21B):c.*910C>T rs745335688 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_024753.5(TTC21B):c.1637C>T (p.Ser546Phe) rs140323384 0.00010
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala) rs778812789 0.00009
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn) rs146201603 0.00009
NM_024753.5(TTC21B):c.783G>T (p.Gly261=) rs200255917 0.00009
NM_024753.5(TTC21B):c.795+3A>G rs753275145 0.00008
NM_024753.5(TTC21B):c.876A>G (p.Thr292=) rs185247361 0.00007
NM_024753.5(TTC21B):c.1575T>C (p.Tyr525=) rs199559023 0.00006
NM_024753.5(TTC21B):c.2259G>A (p.Pro753=) rs570679271 0.00006
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00006
NM_024753.5(TTC21B):c.*246G>A rs759810831 0.00005
NM_024753.5(TTC21B):c.-44G>A rs1047095367 0.00005
NM_024753.5(TTC21B):c.1677G>C (p.Val559=) rs149842503 0.00005
NM_024753.5(TTC21B):c.2550G>A (p.Ala850=) rs144151561 0.00005
NM_024753.5(TTC21B):c.2569G>A (p.Ala857Thr) rs190101048 0.00005
NM_024753.5(TTC21B):c.*360C>A rs923460925 0.00004
NM_024753.5(TTC21B):c.*419C>A rs886055024 0.00004
NM_024753.5(TTC21B):c.3003A>C (p.Lys1001Asn) rs377209277 0.00004
NM_024753.5(TTC21B):c.3805+13A>G rs529123534 0.00004
NM_024753.5(TTC21B):c.2100G>A (p.Lys700=) rs368202285 0.00003
NM_024753.5(TTC21B):c.2731C>G (p.Leu911Val) rs112372576 0.00003
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln) rs747246700 0.00003
NM_024753.5(TTC21B):c.3264-3C>G rs189122492 0.00003
NM_024753.5(TTC21B):c.3664C>T (p.Arg1222Trp) rs749330118 0.00003
NM_024753.5(TTC21B):c.3873+10T>A rs779470575 0.00003
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys) rs184586093 0.00003
NM_024753.5(TTC21B):c.*1107A>G rs1200937712 0.00002
NM_024753.5(TTC21B):c.*593G>A rs886055022 0.00002
NM_024753.5(TTC21B):c.*680C>T rs746664114 0.00002
NM_024753.5(TTC21B):c.*730A>C rs886055021 0.00002
NM_024753.5(TTC21B):c.2903A>G (p.Tyr968Cys) rs574803644 0.00002
NM_024753.5(TTC21B):c.*1104G>A rs1001278499 0.00001
NM_024753.5(TTC21B):c.*642C>T rs547612425 0.00001
NM_024753.5(TTC21B):c.-16C>G rs886055030 0.00001
NM_024753.5(TTC21B):c.-64G>A rs886055031 0.00001
NM_024753.5(TTC21B):c.1432A>T (p.Ile478Phe) rs948455096 0.00001
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg) rs748993825 0.00001
NM_024753.5(TTC21B):c.1552T>C (p.Cys518Arg) rs1378821369 0.00001
NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln) rs377128320 0.00001
NM_024753.5(TTC21B):c.2258C>T (p.Pro753Leu) rs539769126 0.00001
NM_024753.5(TTC21B):c.256A>C (p.Asn86His) rs773555238 0.00001
NM_024753.5(TTC21B):c.3101+9A>G rs764331829 0.00001
NM_024753.5(TTC21B):c.338A>G (p.His113Arg) rs146865517 0.00001
NM_024753.5(TTC21B):c.3450A>G (p.Ala1150=) rs767037992 0.00001
NM_024753.5(TTC21B):c.3500A>G (p.Tyr1167Cys) rs1040877016 0.00001
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala) rs568969576 0.00001
NM_024753.5(TTC21B):c.*1117A>G rs189771746
NM_024753.5(TTC21B):c.*451G>C rs886055023
NM_024753.5(TTC21B):c.*540T>C rs534739269
NM_024753.5(TTC21B):c.*544A>G rs565605248
NM_024753.5(TTC21B):c.*681G>A rs545195226
NM_024753.5(TTC21B):c.*926C>A rs1046348644
NM_024753.5(TTC21B):c.1048G>T (p.Ala350Ser) rs752711108
NM_024753.5(TTC21B):c.1116G>T (p.Gly372=) rs771405314
NM_024753.5(TTC21B):c.114C>G (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.1176_1185+1del rs1686809735
NM_024753.5(TTC21B):c.1181C>T (p.Ser394Phe) rs748339995
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.1656T>A (p.Cys552Ter) rs387907059
NM_024753.5(TTC21B):c.1682A>G (p.Asp561Gly) rs1354455514
NM_024753.5(TTC21B):c.1999C>T (p.Gln667Ter) rs1559056633
NM_024753.5(TTC21B):c.2084C>T (p.Ala695Val) rs1686122209
NM_024753.5(TTC21B):c.2530A>G (p.Met844Val) rs766811699
NM_024753.5(TTC21B):c.2622T>G (p.Asp874Glu) rs886055026
NM_024753.5(TTC21B):c.2830C>A (p.Leu944Met) rs1685490402
NM_024753.5(TTC21B):c.2901C>G (p.Asp967Glu) rs886055025
NM_024753.5(TTC21B):c.2983C>G (p.Leu995Val) rs1685169149
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.3713G>A (p.Gly1238Glu) rs1294549037
NM_024753.5(TTC21B):c.497del (p.Lys166fs) rs2105363277
NM_024753.5(TTC21B):c.629G>A (p.Ser210Asn) rs937191572
NM_024753.5(TTC21B):c.63T>C (p.His21=) rs886055029
NM_024753.5(TTC21B):c.685G>A (p.Asp229Asn) rs769003862
NM_024753.5(TTC21B):c.793A>C (p.Lys265Gln) rs886055027
NM_024753.5(TTC21B):c.914TTC[1] (p.Leu306del)
NM_024753.5(TTC21B):c.992G>A (p.Gly331Glu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.