ClinVar Miner

List of variants in gene CTSK studied for bone disorder

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 142
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HGVS dbSNP gnomAD frequency
NM_000396.4(CTSK):c.831A>G (p.Ala277=) rs10788796 0.97586
NM_000396.4(CTSK):c.675A>G (p.Arg225=) rs41271965 0.00287
NM_000396.4(CTSK):c.399+9C>T rs188468815 0.00090
NM_000396.4(CTSK):c.-1-9C>T rs200480574 0.00080
NM_000396.4(CTSK):c.684C>T (p.Pro228=) rs142097792 0.00041
NM_000396.4(CTSK):c.812G>A (p.Ser271Asn) rs183135762 0.00016
NM_000396.4(CTSK):c.169A>G (p.Ile57Val) rs201446793 0.00015
NM_000396.4(CTSK):c.244-10_244-8del rs774922287 0.00013
NM_000396.4(CTSK):c.*342C>T rs201937004 0.00011
NM_000396.4(CTSK):c.22C>T (p.Leu8=) rs138360770 0.00009
NM_000396.4(CTSK):c.953G>A (p.Cys318Tyr) rs762780994 0.00008
NM_000396.4(CTSK):c.*461C>A rs200974564 0.00007
NM_000396.4(CTSK):c.117C>T (p.Asn39=) rs369459638 0.00006
NM_000396.3(CTSK):c.-72T>C rs187955801 0.00005
NM_000396.4(CTSK):c.*467A>G rs201446377 0.00005
NM_000396.4(CTSK):c.263A>C (p.Gln88Pro) rs762212949 0.00005
NM_000396.4(CTSK):c.814G>A (p.Asp272Asn) rs201772791 0.00004
NM_000396.4(CTSK):c.816T>A (p.Asp272Glu) rs190892496 0.00004
NM_000396.3(CTSK):c.-185C>T rs886045275 0.00003
NM_000396.3(CTSK):c.-91G>A rs587638612 0.00003
NM_000396.4(CTSK):c.120+1G>A rs1057517279 0.00003
NM_000396.4(CTSK):c.746T>C (p.Ile249Thr) rs199919553 0.00003
NM_000396.4(CTSK):c.934C>G (p.Arg312Gly) rs375958814 0.00003
NM_000396.4(CTSK):c.30T>G (p.Pro10=) rs139004720 0.00002
NM_000396.4(CTSK):c.375A>G (p.Gly125=) rs766065317 0.00002
NM_000396.4(CTSK):c.633G>A (p.Met211Ile) rs201800918 0.00002
NM_000396.3(CTSK):c.-83G>A rs1485596531 0.00001
NM_000396.4(CTSK):c.115A>T (p.Asn39Tyr) rs771768736 0.00001
NM_000396.4(CTSK):c.121-1G>A rs587663163 0.00001
NM_000396.4(CTSK):c.136C>T (p.Arg46Trp) rs371277428 0.00001
NM_000396.4(CTSK):c.137G>A (p.Arg46Gln) rs200870056 0.00001
NM_000396.4(CTSK):c.20T>C (p.Leu7Pro) rs1654101631 0.00001
NM_000396.4(CTSK):c.26T>C (p.Leu9Pro) rs1057517252 0.00001
NM_000396.4(CTSK):c.289_290del (p.Leu97fs) rs773943327 0.00001
NM_000396.4(CTSK):c.364C>T (p.Arg122Ter) rs759107967 0.00001
NM_000396.4(CTSK):c.365G>A (p.Arg122Gln) rs1553197383 0.00001
NM_000396.4(CTSK):c.419G>A (p.Trp140Ter) rs2101951671 0.00001
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg) rs74315302 0.00001
NM_000396.4(CTSK):c.551A>G (p.Asn184Ser) rs774888582 0.00001
NM_000396.4(CTSK):c.578G>A (p.Arg193Gln) rs781168584 0.00001
NM_000396.4(CTSK):c.685G>A (p.Glu229Lys) rs200515162 0.00001
NM_000396.4(CTSK):c.894G>A (p.Trp298Ter) rs1237746431 0.00001
NM_000396.4(CTSK):c.8G>A (p.Gly3Glu) rs202055627 0.00001
NM_000396.4(CTSK):c.905G>A (p.Trp302Ter) rs1571122183 0.00001
NM_000396.4(CTSK):c.926T>C (p.Leu309Pro) rs29001685 0.00001
NM_000396.4(CTSK):c.113del (p.Asn38fs) rs2525180438
NM_000396.4(CTSK):c.114CAA[1] (p.Asn39del) rs750595350
NM_000396.4(CTSK):c.119del (p.Lys40fs) rs2525180406
NM_000396.4(CTSK):c.120+1G>T rs1057517279
NM_000396.4(CTSK):c.121-2A>G rs1057516587
NM_000396.4(CTSK):c.127G>T (p.Glu43Ter) rs2525178878
NM_000396.4(CTSK):c.148T>G (p.Trp50Gly) rs2101953595
NM_000396.4(CTSK):c.150G>A (p.Trp50Ter) rs2525178794
NM_000396.4(CTSK):c.151dup (p.Glu51fs) rs2525178790
NM_000396.4(CTSK):c.154A>T (p.Lys52Ter) rs74315306
NM_000396.4(CTSK):c.158dup (p.Asn53fs) rs764168526
NM_000396.4(CTSK):c.163A>T (p.Lys55Ter) rs2525178672
NM_000396.4(CTSK):c.169_170del (p.Ile57fs) rs2525178648
NM_000396.4(CTSK):c.190_200del (p.Ala64fs) rs760640027
NM_000396.4(CTSK):c.213T>A (p.Tyr71Ter) rs780202604
NM_000396.4(CTSK):c.214G>T (p.Glu72Ter) rs2525178470
NM_000396.4(CTSK):c.21GCT[1] (p.Leu9del) rs1553197476
NM_000396.4(CTSK):c.236G>A (p.Gly79Glu) rs74315305
NM_000396.4(CTSK):c.239_243+1del rs2525178332
NM_000396.4(CTSK):c.243+1G>A rs1057517263
NM_000396.4(CTSK):c.243+4A>G rs2101953449
NM_000396.4(CTSK):c.244-29A>G rs1654085401
NM_000396.4(CTSK):c.274G>T (p.Gly92Ter) rs768992778
NM_000396.4(CTSK):c.334G>T (p.Glu112Ter) rs587775407
NM_000396.4(CTSK):c.338del (p.Gly113fs)
NM_000396.4(CTSK):c.343delinsACCTTGAC (p.Ala115fs)
NM_000396.4(CTSK):c.395dup (p.Asn132fs) rs1057516725
NM_000396.4(CTSK):c.397C>T (p.Gln133Ter) rs1654079662
NM_000396.4(CTSK):c.399+1G>A rs2101953129
NM_000396.4(CTSK):c.399+2del rs1057516839
NM_000396.4(CTSK):c.3G>A (p.Met1Ile) rs778368118
NM_000396.4(CTSK):c.3G>T (p.Met1Ile) rs778368118
NM_000396.4(CTSK):c.400-1G>C rs1553197262
NM_000396.4(CTSK):c.402del (p.Gln135fs) rs2101951682
NM_000396.4(CTSK):c.417T>A (p.Cys139Ter) rs2525174048
NM_000396.4(CTSK):c.423_450del (p.Phe142fs) rs1057516627
NM_000396.4(CTSK):c.426del (p.Phe142fs) rs1057516514
NM_000396.4(CTSK):c.431_432del (p.Ser144fs) rs2101951641
NM_000396.4(CTSK):c.44C>T (p.Ala15Val)
NM_000396.4(CTSK):c.458del (p.Lys153fs) rs2101951608
NM_000396.4(CTSK):c.475_476insAGCCATCATTG (p.Leu159fs) rs2525173940
NM_000396.4(CTSK):c.487A>G (p.Ser163Gly)
NM_000396.4(CTSK):c.48del (p.Tyr17fs) rs1057516790
NM_000396.4(CTSK):c.490C>A (p.Pro164Thr) rs886045274
NM_000396.4(CTSK):c.493dup (p.Gln165fs)
NM_000396.4(CTSK):c.503T>C (p.Val168Ala) rs1309902734
NM_000396.4(CTSK):c.505G>A (p.Asp169Asn) rs2101951545
NM_000396.4(CTSK):c.513_514del (p.Val171_Ser172insTer)
NM_000396.4(CTSK):c.547A>C (p.Thr183Pro) rs1654042476
NM_000396.4(CTSK):c.556T>C (p.Phe186Leu) rs2101951483
NM_000396.4(CTSK):c.564T>G (p.Tyr188Ter)
NM_000396.4(CTSK):c.568C>T (p.Gln190Ter) rs202040269
NM_000396.4(CTSK):c.576_577delinsG (p.Asn192fs) rs1553197239
NM_000396.4(CTSK):c.577C>T (p.Arg193Trp) rs747914097
NM_000396.4(CTSK):c.581del (p.Gly194fs) rs2525173663
NM_000396.4(CTSK):c.590_591del (p.Asp196_Ser197insTer) rs2525173651
NM_000396.4(CTSK):c.5G>A (p.Trp2Ter) rs1654102585
NM_000396.4(CTSK):c.606A>G (p.Pro202=) rs1654040742
NM_000396.4(CTSK):c.616C>T (p.Gln206Ter) rs199555702
NM_000396.4(CTSK):c.618+1G>A rs1553197230
NM_000396.4(CTSK):c.618+2T>G rs75481239
NM_000396.4(CTSK):c.637_639del (p.Asn213del) rs2525166958
NM_000396.4(CTSK):c.648del (p.Lys217fs) rs1057516891
NM_000396.4(CTSK):c.655del (p.Ala219fs) rs2525166892
NM_000396.4(CTSK):c.658A>T (p.Lys220Ter) rs1225660627
NM_000396.4(CTSK):c.669del (p.Tyr224fs) rs1553196945
NM_000396.4(CTSK):c.670T>C (p.Tyr224His)
NM_000396.4(CTSK):c.679_680insAA (p.Ile227fs) rs758450569
NM_000396.4(CTSK):c.690del (p.Asn231fs) rs2525166561
NM_000396.4(CTSK):c.696_697del (p.Lys233fs) rs2525166556
NM_000396.4(CTSK):c.712delinsTCAGGCTTGCAT (p.Ala238fs) rs2525166522
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) rs74315303
NM_000396.4(CTSK):c.724_731del (p.Val242fs) rs2525166455
NM_000396.4(CTSK):c.737_738del (p.Ser246fs) rs750699844
NM_000396.4(CTSK):c.746T>A (p.Ile249Asn) rs199919553
NM_000396.4(CTSK):c.749A>G (p.Asp250Gly) rs770343722
NM_000396.4(CTSK):c.784+1G>A rs1553196934
NM_000396.4(CTSK):c.784+1G>C
NM_000396.4(CTSK):c.78G>A (p.Trp26Ter) rs2525180527
NM_000396.4(CTSK):c.818del (p.Asn273fs) rs1653935181
NM_000396.4(CTSK):c.826C>T (p.His276Tyr) rs1571123333
NM_000396.4(CTSK):c.826del (p.His276fs) rs1553196906
NM_000396.4(CTSK):c.827A>G (p.His276Arg) rs2101947647
NM_000396.4(CTSK):c.830C>T (p.Ala277Val) rs74315304
NM_000396.4(CTSK):c.83dup (p.Trp29fs) rs2101954034
NM_000396.4(CTSK):c.876G>A (p.Trp292Ter) rs1553196900
NM_000396.4(CTSK):c.881T>C (p.Ile294Thr)
NM_000396.4(CTSK):c.884A>C (p.Lys295Thr) rs2101947591
NM_000396.4(CTSK):c.890+6G>A rs886045273
NM_000396.4(CTSK):c.891-1G>T rs1557823855
NM_000396.4(CTSK):c.891-21_892dup rs1553196764
NM_000396.4(CTSK):c.907G>A (p.Gly303Arg) rs2101946013
NM_000396.4(CTSK):c.908G>A (p.Gly303Glu) rs756250449
NM_000396.4(CTSK):c.934C>T (p.Arg312Ter) rs375958814
NM_000396.4(CTSK):c.947_948del (p.Asn316fs) rs2525161846
NM_000396.4(CTSK):c.990A>G (p.Ter330Trp) rs74315301
NM_000396.4(CTSK):c.9del (p.Leu4fs) rs2525180734

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