List of variants in gene BTK reported by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 77

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000061.3(BTK):c.1899C>T (p.Cys633=)	rs1135363	0.37760
NM_000061.3(BTK):c.*116A>C	rs700	0.35507
NM_000061.3(BTK):c.840-262G>A	rs67491067	0.34109
NM_000061.3(BTK):c.839+53A>C	rs2746110	0.24705
NM_000061.3(BTK):c.241-175G>A	rs3027629	0.23729
NM_000061.3(BTK):c.839+51C>A	rs5951412	0.20859
NM_000061.3(BTK):c.776+78G>A	rs2855259	0.16810
NM_000061.3(BTK):c.-30-198C>T	rs73250683	0.15612
NM_000061.3(BTK):c.310-226G>A	rs2301175	0.12108
NM_000061.3(BTK):c.588+172G>A	rs3027641	0.11093
NM_000061.3(BTK):c.1350-176C>T	rs3027643	0.08779
NM_000061.3(BTK):c.839+194G>C	rs143542741	0.06044
NM_000061.3(BTK):c.310-124A>G	rs3027632	0.02881
NM_001287344.2(BTK):c.72+3927C>T	rs111262477	0.02280
NM_000061.3(BTK):c.1178-207C>T	rs60771146	0.01444
NM_000061.3(BTK):c.-30-162C>A	rs3027625	0.00707
NM_000061.3(BTK):c.141+11C>T	rs138411530	0.00620
NM_000061.3(BTK):c.615G>T (p.Glu205Asp)	rs35877704	0.00114
NM_000061.3(BTK):c.100G>A (p.Val34Met)	rs141488935	0.00001
NM_000061.3(BTK):c.1697C>T (p.Pro566Leu)	rs1057521814	0.00001
NM_000061.3(BTK):c.1823A>G (p.Glu608Gly)	rs781930404	0.00001
NM_000061.2(BTK):c.842_844delGGT	rs2147431016
NM_000061.3(BTK):c.-31+5G>T	rs1131691354
NM_000061.3(BTK):c.1064T>A (p.Ile355Asn)	rs1057517709
NM_000061.3(BTK):c.1103G>A (p.Gly368Glu)	rs1057517710
NM_000061.3(BTK):c.1185G>A (p.Trp395Ter)	rs1064796836
NM_000061.3(BTK):c.119A>G (p.Tyr40Cys)	rs1555980875
NM_000061.3(BTK):c.1489C>T (p.Gln497Ter)	rs1555977811
NM_000061.3(BTK):c.1527G>A (p.Met509Ile)
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter)	rs128621201
NM_000061.3(BTK):c.1567-12_1567-9del	rs1569291244
NM_000061.3(BTK):c.1573C>T (p.Arg525Ter)	rs886041149
NM_000061.3(BTK):c.1580G>C (p.Cys527Ser)	rs1057520578
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs)	rs1555977592
NM_000061.3(BTK):c.1631+71C>T	rs2071223
NM_000061.3(BTK):c.1632-2A>G	rs886039555
NM_000061.3(BTK):c.1685G>C (p.Arg562Pro)	rs104894770
NM_000061.3(BTK):c.1688G>T (p.Trp563Leu)	rs1555977474
NM_000061.3(BTK):c.1757T>C (p.Leu586Ser)	rs1064796809
NM_000061.3(BTK):c.1760T>C (p.Met587Thr)	rs886039321
NM_000061.3(BTK):c.1771del (p.Tyr591fs)	rs1555977341
NM_000061.3(BTK):c.1789C>T (p.Pro597Ser)	rs868967798
NM_000061.3(BTK):c.1805C>T (p.Thr602Ile)	rs1057521116
NM_000061.3(BTK):c.1868C>T (p.Ser623Leu)	rs1926354581
NM_000061.3(BTK):c.1888A>C (p.Met630Leu)	rs1064794904
NM_000061.3(BTK):c.1908+123del	rs376521920
NM_000061.3(BTK):c.1908+142G>A	rs184472722
NM_000061.3(BTK):c.1908+278dup	rs60191867
NM_000061.3(BTK):c.1908+294del	rs60191867
NM_000061.3(BTK):c.1908+302C>T	rs147512981
NM_000061.3(BTK):c.1909-134del	rs199950200
NM_000061.3(BTK):c.1909-149dup	rs199950200
NM_000061.3(BTK):c.1978T>G (p.Ter660Gly)	rs1085307927
NM_000061.3(BTK):c.215dup (p.Asn72fs)	rs886041148
NM_000061.3(BTK):c.307C>T (p.Gln103Ter)	rs886039657
NM_000061.3(BTK):c.359T>C (p.Leu120Pro)	rs1555980053
NM_000061.3(BTK):c.370T>C (p.Trp124Arg)	rs7474275
NM_000061.3(BTK):c.391+143dup	rs193922127
NM_000061.3(BTK):c.391+165_391+168del	rs200888149
NM_000061.3(BTK):c.391+251_391+253del	rs373562379
NM_000061.3(BTK):c.391+251_391+257del	rs79879307
NM_000061.3(BTK):c.41C>A (p.Ser14Tyr)	rs1057520682
NM_000061.3(BTK):c.469C>T (p.Gln157Ter)	rs886041473
NM_000061.3(BTK):c.46C>T (p.Gln16Ter)	rs1555980888
NM_000061.3(BTK):c.589-7T>G	rs2147433286
NM_000061.3(BTK):c.669T>A (p.Tyr223Ter)	rs1057520612
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)	rs128621193
NM_000061.3(BTK):c.806del (p.Val269fs)	rs1926614700
NM_000061.3(BTK):c.839+41CT[7]	rs200761404
NM_000061.3(BTK):c.839+53AT[8]	rs199758498
NM_000061.3(BTK):c.83G>A (p.Arg28His)	rs128620185
NM_000061.3(BTK):c.857T>C (p.Met286Thr)
NM_000061.3(BTK):c.863G>A (p.Arg288Gln)	rs1555978277
NM_000061.3(BTK):c.892G>A (p.Glu298Lys)
NM_000061.3(BTK):c.894+1G>A	rs1064793859
NM_000061.3(BTK):c.903AGG[1] (p.Gly303del)	rs1064794285
NM_000061.3(BTK):c.974+5G>A	rs2147430161

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.