ClinVar Miner

List of variants in gene BTK studied for agammaglobulinemia

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 105
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HGVS dbSNP
BTK, 1-BP DEL, 1720A
BTK, 1-BP DEL, IVS11DS, +1G
BTK, 1-BP DEL/3-BP INS, CODON 261
BTK, 16-BP INS, NT1263
BTK, 26-BP INS, NT2019
BTK, 4-BP DEL, CODON 527, GTTT
BTK, 6-BP INS, NT2041
BTK, 6.1-KB DEL
BTK, IVS12AS, A-T, -2
NM_000061.2(BTK):c.*116A>C rs700
NM_000061.2(BTK):c.*192G>A rs1057403
NM_000061.2(BTK):c.*334T>G rs183674618
NM_000061.2(BTK):c.*342T>G rs781937023
NM_000061.2(BTK):c.-105G>T rs1034801451
NM_000061.2(BTK):c.-31+5G>A rs1131691354
NM_000061.2(BTK):c.1001A>C (p.Tyr334Ser) rs128621196
NM_000061.2(BTK):c.1004T>A (p.Val335Asp) rs1569292214
NM_000061.2(BTK):c.1116G>C (p.Arg372Ser) rs1555978024
NM_000061.2(BTK):c.1138C>T (p.Gln380Ter) rs1569292021
NM_000061.2(BTK):c.121G>A (p.Glu41Lys) rs1057520045
NM_000061.2(BTK):c.141+11C>T rs138411530
NM_000061.2(BTK):c.141+3_141+4del rs864321661
NM_000061.2(BTK):c.141+3_141+6del rs1555980866
NM_000061.2(BTK):c.1455C>A (p.Tyr485Ter) rs193922124
NM_000061.2(BTK):c.1475G>A (p.Arg492His) rs782338603
NM_000061.2(BTK):c.1511A>T (p.Asp504Val) rs193922125
NM_000061.2(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000061.2(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000061.2(BTK):c.1567-2A>T rs1555977598
NM_000061.2(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.2(BTK):c.1581_1584del (p.Cys527fs) rs1555977592
NM_000061.2(BTK):c.161del (p.Gly54fs) rs1555980799
NM_000061.2(BTK):c.1630_1631+3delinsGAAA rs1555977580
NM_000061.2(BTK):c.1631+1G>T rs1569291215
NM_000061.2(BTK):c.164C>A (p.Ser55Ter) rs1555980796
NM_000061.2(BTK):c.1673_1680del (p.Lys558fs) rs193922126
NM_000061.2(BTK):c.1684C>T (p.Arg562Trp) rs128621204
NM_000061.2(BTK):c.1685G>C (p.Arg562Pro) rs104894770
NM_000061.2(BTK):c.1706T>C (p.Leu569Pro) rs1555977461
NM_000061.2(BTK):c.1741T>C (p.Trp581Arg) rs128621205
NM_000061.2(BTK):c.1763G>A (p.Trp588Ter)
NM_000061.2(BTK):c.1766A>G (p.Glu589Gly) rs128621206
NM_000061.2(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.2(BTK):c.1820C>A (p.Ala607Asp) rs128621208
NM_000061.2(BTK):c.1838G>A (p.Gly613Asp) rs128621209
NM_000061.2(BTK):c.1889T>A (p.Met630Lys) rs128621210
NM_000061.2(BTK):c.1899C>T (p.Cys633=) rs1135363
NM_000061.2(BTK):c.1906G>T (p.Glu636Ter) rs128622211
NM_000061.2(BTK):c.1946del (p.Ser649fs) rs1555976766
NM_000061.2(BTK):c.1955T>C (p.Leu652Pro) rs128622212
NM_000061.2(BTK):c.215dup (p.Asn72fs) rs886041148
NM_000061.2(BTK):c.228_231del (p.Glu76fs) rs864321660
NM_000061.2(BTK):c.240G>A (p.Pro80=) rs1569296295
NM_000061.2(BTK):c.2T>C (p.Met1Thr) rs128620186
NM_000061.2(BTK):c.310-1G>C rs864321662
NM_000061.2(BTK):c.310-2A>G rs864321663
NM_000061.2(BTK):c.338T>A (p.Val113Asp) rs128621190
NM_000061.2(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.2(BTK):c.37C>T (p.Arg13Ter) rs128620187
NM_000061.2(BTK):c.389del (p.Asn130fs) rs864321664
NM_000061.2(BTK):c.391+137dup rs193922127
NM_000061.2(BTK):c.435C>A (p.Cys145Ter) rs1555978891
NM_000061.2(BTK):c.43C>T (p.Gln15Ter) rs128620188
NM_000061.2(BTK):c.472_475del (p.Thr158fs) rs193922128
NM_000061.2(BTK):c.520+15C>T rs782697907
NM_000061.2(BTK):c.557dup (p.Pro187fs) rs864321665
NM_000061.2(BTK):c.588+1G>T rs1569293252
NM_000061.2(BTK):c.588+2T>A rs1555978777
NM_000061.2(BTK):c.588_589insCTACATAG (p.Ile197fs) rs1569293253
NM_000061.2(BTK):c.615G>T (p.Glu205Asp) rs35877704
NM_000061.2(BTK):c.642_643del (p.Ser214fs) rs1569292818
NM_000061.2(BTK):c.653del (p.Lys218fs) rs1569292813
NM_000061.2(BTK):c.718G>T (p.Glu240Ter) rs128621191
NM_000061.2(BTK):c.726dup (p.Ile243fs) rs1569292774
NM_000061.2(BTK):c.755G>A (p.Trp252Ter) rs128621192
NM_000061.2(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.2(BTK):c.777-2A>G rs193922129
NM_000061.2(BTK):c.777-3C>G rs193922130
NM_000061.2(BTK):c.799_806del (p.Asn267fs) rs1555978412
NM_000061.2(BTK):c.839+1G>A rs1569292649
NM_000061.2(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.2(BTK):c.840-1G>A rs193922131
NM_000061.2(BTK):c.852A>G (p.Lys284=) rs1057515724
NM_000061.2(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.2(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000061.2(BTK):c.895-10G>A rs370812397
NM_000061.2(BTK):c.895-2A>G rs193922132
NM_000061.2(BTK):c.919A>G (p.Arg307Gly) rs128621195
NM_000061.2(BTK):c.953C>T (p.Ser318Phe) rs1555978197
NM_000061.2(BTK):c.954T>C (p.Ser318=) rs5991926
NM_000061.2(BTK):c.97A>C (p.Thr33Pro) rs128620189
NM_000061.2(BTK):c.998A>G (p.His333Arg) rs193922133
NM_000061.3(BTK):c.1252T>C (p.Tyr418His)
NM_000061.3(BTK):c.1784dup (p.Met596fs)
NM_000061.3(BTK):c.36G>T (p.Lys12Asn)
NM_000061.3(BTK):c.655del (p.Val219fs) rs1569292810
NM_000061.3(BTK):c.721dup (p.Tyr241fs)
NM_001287344.1(BTK):c.*334_*335TG[4] rs200445244
NM_001287344.1(BTK):c.278_280AGA[1] (p.Lys94del)
NM_001287345.1(BTK):c.1038+1464T>C rs128621198
NM_001287345.1(BTK):c.1038+1516C>A rs128621199
NM_001287345.1(BTK):c.1038+1529A>G rs128620184
NM_001287345.1(BTK):c.1038+44A>G rs28935478
NM_001287345.1(BTK):c.1039-1408T>C rs128621200
NM_001287345.1(BTK):c.1039-1418C>A rs41310709

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