ClinVar Miner

List of variants in gene BTK reported as pathogenic by OMIM

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
BTK, 1-BP DEL/3-BP INS, CODON 261
BTK, 26-BP INS, NT2019
BTK, ALA-ASP, 1952C-A
NM_000061.3(BTK):c.-31+5G>A rs1131691354
NM_000061.3(BTK):c.1001A>C (p.Tyr334Ser) rs128621196
NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys) rs28935478
NM_000061.3(BTK):c.1103-2A>G rs1603005659
NM_000061.3(BTK):c.1116_1131dup (p.Ser378fs) rs2147429013
NM_000061.3(BTK):c.1125T>G (p.Tyr375Ter) rs128621197
NM_000061.3(BTK):c.1223T>C (p.Leu408Pro) rs128621198
NM_000061.3(BTK):c.1275C>A (p.Tyr425Ter) rs128621199
NM_000061.3(BTK):c.1288A>G (p.Lys430Glu) rs128620184
NM_000061.3(BTK):c.141+3_141+4del rs864321661
NM_000061.3(BTK):c.1506C>A (p.Cys502Ter) rs41310709
NM_000061.3(BTK):c.1516T>C (p.Cys506Arg) rs128621200
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) rs128621202
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs) rs1555977592
NM_000061.3(BTK):c.1589del (p.Asn530fs) rs2147425836
NM_000061.3(BTK):c.1625T>C (p.Leu542Pro) rs128621203
NM_000061.3(BTK):c.1631+1G>T rs1569291215
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp) rs128621204
NM_000061.3(BTK):c.1685G>C (p.Arg562Pro) rs104894770
NM_000061.3(BTK):c.1741T>C (p.Trp581Arg) rs128621205
NM_000061.3(BTK):c.1750+5G>A rs864321659
NM_000061.3(BTK):c.1766A>G (p.Glu589Gly) rs128621206
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) rs128621207
NM_000061.3(BTK):c.1820C>A (p.Ala607Asp) rs128621208
NM_000061.3(BTK):c.1838G>A (p.Gly613Asp) rs128621209
NM_000061.3(BTK):c.1889T>A (p.Met630Lys) rs128621210
NM_000061.3(BTK):c.1906G>T (p.Glu636Ter) rs128622211
NM_000061.3(BTK):c.1908_1909insTTTTAG (p.Lys637delinsPheTer) rs2147423959
NM_000061.3(BTK):c.1955T>C (p.Leu652Pro) rs128622212
NM_000061.3(BTK):c.228_231del (p.Glu76fs) rs864321660
NM_000061.3(BTK):c.2T>C (p.Met1Thr) rs128620186
NM_000061.3(BTK):c.310-1G>C rs864321662
NM_000061.3(BTK):c.310-2A>G rs864321663
NM_000061.3(BTK):c.338T>A (p.Val113Asp) rs128621190
NM_000061.3(BTK):c.37C>T (p.Arg13Ter) rs128620187
NM_000061.3(BTK):c.389del (p.Asn130fs) rs864321664
NM_000061.3(BTK):c.43C>T (p.Gln15Ter) rs128620188
NM_000061.3(BTK):c.557dup (p.Pro187fs) rs864321665
NM_000061.3(BTK):c.588_589insCTACATAG (p.Ile197fs) rs1569293253
NM_000061.3(BTK):c.642_643del (p.Ser214fs) rs1569292818
NM_000061.3(BTK):c.653del (p.Lys218fs) rs1569292813
NM_000061.3(BTK):c.718G>T (p.Glu240Ter) rs128621191
NM_000061.3(BTK):c.755G>A (p.Trp252Ter) rs128621192
NM_000061.3(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.3(BTK):c.839+1G>A rs1569292649
NM_000061.3(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000061.3(BTK):c.894+191_1908+163del
NM_000061.3(BTK):c.919A>G (p.Arg307Gly) rs128621195
NM_000061.3(BTK):c.974+1del rs2147430166
NM_000061.3(BTK):c.97A>C (p.Thr33Pro) rs128620189

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