ClinVar Miner

List of variants in gene CTSB

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Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_001908.5(CTSB):c.447-16G>C rs2294140 0.41215
NM_001908.5(CTSB):c.327+20C>T rs2272766 0.35003
NM_001908.5(CTSB):c.157A>G (p.Ser53Gly) rs1803250 0.09854
NM_001908.5(CTSB):c.704G>A (p.Ser235Asn) rs17573 0.04325
NM_001908.5(CTSB):c.699C>T (p.Ser233=) rs115207582 0.01497
NM_001908.5(CTSB):c.327+10T>A rs116738069 0.01403
NM_001908.5(CTSB):c.582C>T (p.Ser194=) rs2230070 0.00818
NM_001908.5(CTSB):c.441G>A (p.Gly147=) rs1137069 0.00340
NM_001908.5(CTSB):c.272C>T (p.Pro91Leu) rs11548596 0.00318
NM_001908.5(CTSB):c.446+9G>C rs199582927 0.00251
NM_001908.5(CTSB):c.849G>A (p.Leu283=) rs146909557 0.00236
NM_001908.5(CTSB):c.687C>G (p.Ser229=) rs2230071 0.00218
NM_001908.5(CTSB):c.1001A>C (p.Gln334Pro) rs117613666 0.00212
NM_001908.5(CTSB):c.576C>T (p.Asn192=) rs146220622 0.00205
NM_001908.5(CTSB):c.223A>G (p.Thr75Ala) rs74996838 0.00086
NM_001908.5(CTSB):c.735A>C (p.Lys245Asn) rs145214017 0.00068
NM_001908.5(CTSB):c.768T>C (p.Tyr256=) rs140778517 0.00061
NM_001908.5(CTSB):c.949G>A (p.Asp317Asn) rs79487342 0.00051
NM_001908.5(CTSB):c.922+14C>G rs199911673 0.00044
NM_001908.5(CTSB):c.922+13C>T rs201786259 0.00042
NM_001908.5(CTSB):c.709A>G (p.Lys237Glu) rs138489258 0.00029
NM_001908.5(CTSB):c.761C>G (p.Ser254Cys) rs200664537 0.00020
NM_001908.5(CTSB):c.411C>T (p.Asp137=) rs200926074 0.00019
NM_001908.5(CTSB):c.963C>T (p.Ile321=) rs142780869 0.00019
NM_001908.5(CTSB):c.694G>A (p.Val232Ile) rs117636256 0.00013
NM_001908.5(CTSB):c.745G>T (p.Val249Leu) rs138438915 0.00013
NM_001908.5(CTSB):c.820A>T (p.Met274Leu) rs201335839 0.00013
NM_001908.5(CTSB):c.471A>G (p.Glu157=) rs376137412 0.00011
NM_001908.5(CTSB):c.781C>T (p.Leu261Phe) rs375885162 0.00011
NM_001908.5(CTSB):c.444C>T (p.Asp148=) rs145256597 0.00009
NM_001908.5(CTSB):c.127-9C>G rs375654966 0.00007
NM_001908.5(CTSB):c.390C>T (p.Ser130=) rs11548597 0.00007
NM_001908.5(CTSB):c.812C>G (p.Thr271Ser) rs375073968 0.00006
NM_001908.5(CTSB):c.996C>T (p.Thr332=) rs759777408 0.00006
NM_001908.5(CTSB):c.328-18T>C rs537317363 0.00005
NM_001908.5(CTSB):c.447-3C>T rs74531345 0.00005
NM_001908.5(CTSB):c.609T>G (p.Asp203Glu) rs139775721 0.00005
NM_001908.5(CTSB):c.865A>C (p.Asn289His) rs1217372323 0.00005
NM_001908.5(CTSB):c.543G>A (p.Pro181=) rs151176081 0.00004
NM_001908.5(CTSB):c.658A>G (p.Lys220Glu) rs371200657 0.00004
NM_001908.5(CTSB):c.722C>T (p.Ala241Val) rs375382119 0.00004
NM_001908.5(CTSB):c.991C>T (p.Arg331Cys) rs148519031 0.00004
NM_001908.5(CTSB):c.1000C>G (p.Gln334Glu) rs772641187 0.00003
NM_001908.5(CTSB):c.170G>A (p.Arg57Lys) rs181334968 0.00003
NM_001908.5(CTSB):c.196C>T (p.Pro66Ser) rs142988675 0.00003
NM_001908.5(CTSB):c.532+16T>C rs780138858 0.00003
NM_001908.5(CTSB):c.571G>A (p.Val191Ile) rs984397185 0.00003
NM_001908.5(CTSB):c.583C>T (p.Arg195Trp) rs1195997020 0.00003
NM_001908.5(CTSB):c.226G>A (p.Glu76Lys) rs750280339 0.00002
NM_001908.5(CTSB):c.327+4A>T rs747446660 0.00002
NM_001908.5(CTSB):c.327+6G>A rs370021379 0.00002
NM_001908.5(CTSB):c.351C>G (p.Ile117Met) rs763522789 0.00002
NM_001908.5(CTSB):c.736A>C (p.Asn246His) rs529427270 0.00002
NM_001908.5(CTSB):c.771G>A (p.Ser257=) rs145460996 0.00002
NM_001908.5(CTSB):c.207C>A (p.Pro69=) rs766983965 0.00001
NM_001908.5(CTSB):c.260G>A (p.Arg87Gln) rs1185679436 0.00001
NM_001908.5(CTSB):c.366C>T (p.Cys122=) rs1162223965 0.00001
NM_001908.5(CTSB):c.391G>A (p.Val131Met) rs569307763 0.00001
NM_001908.5(CTSB):c.520G>A (p.Glu174Lys) rs543876755 0.00001
NM_001908.5(CTSB):c.533-10G>A rs748590400 0.00001
NM_001908.5(CTSB):c.623G>A (p.Ser208Asn) rs774765393 0.00001
NM_001908.5(CTSB):c.660A>T (p.Lys220Asn) rs750489428 0.00001
NM_001908.5(CTSB):c.666C>G (p.Asp222Glu) rs1437352509 0.00001
NM_001908.5(CTSB):c.700A>C (p.Asn234His) rs771913643 0.00001
NM_001908.5(CTSB):c.720G>A (p.Met240Ile) rs891468387 0.00001
NM_001908.5(CTSB):c.729C>G (p.Ile243Met) rs768691054 0.00001
NM_001908.5(CTSB):c.739G>A (p.Gly247Ser) rs778486664 0.00001
NM_001908.5(CTSB):c.767A>G (p.Tyr256Cys) rs746059371 0.00001
NM_001908.5(CTSB):c.777C>T (p.Phe259=) rs1413628224 0.00001
NM_001908.5(CTSB):c.841C>T (p.Arg281Cys) rs145252189 0.00001
NM_001908.5(CTSB):c.905C>G (p.Thr302Ser) rs747066753 0.00001
NM_001908.5(CTSB):c.922+12C>T rs756611118 0.00001
NM_001908.5(CTSB):c.994A>G (p.Thr332Ala) rs752849874 0.00001
GRCh37/hg19 8p23.1(chr8:11701700-11824956)x1
GRCh37/hg19 8p23.1(chr8:11714221-11731254)x1
NM_001908.5(CTSB):c.1015A>G (p.Ile339Val) rs777528154
NM_001908.5(CTSB):c.127-11CT[2] rs768758957
NM_001908.5(CTSB):c.129C>A (p.Ala43=) rs149724176
NM_001908.5(CTSB):c.129C>T (p.Ala43=) rs149724176
NM_001908.5(CTSB):c.161A>G (p.Tyr54Cys) rs2131052723
NM_001908.5(CTSB):c.218T>C (p.Met73Thr) rs540266331
NM_001908.5(CTSB):c.221T>C (p.Phe74Ser) rs2486699389
NM_001908.5(CTSB):c.281C>T (p.Pro94Leu) rs148117767
NM_001908.5(CTSB):c.328-10G>A rs79702619
NM_001908.5(CTSB):c.328-10G>T rs79702619
NM_001908.5(CTSB):c.337G>A (p.Ala113Thr) rs764453338
NM_001908.5(CTSB):c.405G>C (p.Ala135=) rs138936863
NM_001908.5(CTSB):c.420A>C (p.Thr140=) rs13332
NM_001908.5(CTSB):c.420A>G (p.Thr140=) rs13332
NM_001908.5(CTSB):c.446+11C>G rs567257300
NM_001908.5(CTSB):c.447-14G>T rs779076886
NM_001908.5(CTSB):c.447-285C>T
NM_001908.5(CTSB):c.447-356G>T
NM_001908.5(CTSB):c.474T>G (p.Ala158=) rs769329288
NM_001908.5(CTSB):c.514C>T (p.Leu172Phe) rs749392493
NM_001908.5(CTSB):c.527A>G (p.His176Arg)
NM_001908.5(CTSB):c.530T>C (p.Val177Ala) rs2486655963
NM_001908.5(CTSB):c.533-11C>G rs1736088
NM_001908.5(CTSB):c.589C>G (p.Pro197Ala)
NM_001908.5(CTSB):c.615del (p.Lys206fs) rs1563388045
NM_001908.5(CTSB):c.637C>T (p.Pro213Ser) rs779605179
NM_001908.5(CTSB):c.651G>T (p.Pro217=) rs150860649
NM_001908.5(CTSB):c.676+14_676+20del rs138997275
NM_001908.5(CTSB):c.680A>G (p.Tyr227Cys) rs766752431
NM_001908.5(CTSB):c.701A>C (p.Asn234Thr) rs1392405203
NM_001908.5(CTSB):c.723C>T (p.Ala241=) rs772885286
NM_001908.5(CTSB):c.737A>C (p.Asn246Thr) rs114308907
NM_001908.5(CTSB):c.745G>A (p.Val249Met)
NM_001908.5(CTSB):c.761C>A (p.Ser254Tyr) rs200664537
NM_001908.5(CTSB):c.770C>G (p.Ser257Trp) rs147604039
NM_001908.5(CTSB):c.770C>T (p.Ser257Leu) rs147604039
NM_001908.5(CTSB):c.794-16G>A rs756799886
NM_001908.5(CTSB):c.814G>A (p.Gly272Arg) rs756929729
NM_001908.5(CTSB):c.846C>G (p.Ile282Met)
NM_001908.5(CTSB):c.868G>A (p.Gly290Ser)
NM_001908.5(CTSB):c.920A>G (p.Asn307Ser)
NM_001908.5(CTSB):c.922+16C>G rs199870292
NM_001908.5(CTSB):c.923-9T>A rs1813045697
NM_001908.5(CTSB):c.944G>C (p.Gly315Ala)
NM_001908.5(CTSB):c.954C>G (p.His318Gln) rs201650067
NM_001908.5(CTSB):c.967T>G (p.Ser323Ala) rs1813033223
NM_001908.5(CTSB):c.992G>C (p.Arg331Pro) rs550759533
NM_001908.5(CTSB):c.997G>A (p.Asp333Asn) rs149786664
NM_001908.5(CTSB):c.997G>T (p.Asp333Tyr) rs149786664

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