ClinVar Miner

List of variants in gene SPTBN2 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 68
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.5980C>T (p.Arg1994Trp) rs140000699 0.00127
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val) rs145891813 0.00089
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp) rs116099040 0.00074
NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp) rs150607879 0.00061
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361 0.00031
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln) rs764407421 0.00028
NM_006946.4(SPTBN2):c.4374G>T (p.Glu1458Asp) rs142378119 0.00020
NM_006946.4(SPTBN2):c.3374G>A (p.Arg1125Gln) rs375601930 0.00016
NM_006946.4(SPTBN2):c.1934G>A (p.Arg645His) rs536915281 0.00013
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val) rs150610657 0.00012
NM_006946.4(SPTBN2):c.3164G>A (p.Arg1055Gln) rs150359739 0.00008
NM_006946.4(SPTBN2):c.3739G>A (p.Asp1247Asn) rs755140928 0.00006
NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His) rs767775507 0.00005
NM_006946.4(SPTBN2):c.1906C>T (p.Arg636Trp) rs773155491 0.00004
NM_006946.4(SPTBN2):c.5804G>A (p.Arg1935His) rs145750214 0.00004
NM_006946.4(SPTBN2):c.7006G>A (p.Glu2336Lys) rs765015336 0.00004
NM_006946.4(SPTBN2):c.1844G>A (p.Arg615Gln) rs768742849 0.00002
NM_006946.4(SPTBN2):c.5137C>T (p.Arg1713Cys) rs754809056 0.00002
NM_006946.4(SPTBN2):c.5399C>T (p.Ala1800Val) rs367960697 0.00002
NM_006946.4(SPTBN2):c.5404G>A (p.Glu1802Lys) rs149317715 0.00002
NM_006946.4(SPTBN2):c.6063T>G (p.Asp2021Glu) rs748137168 0.00002
NM_006946.4(SPTBN2):c.6535C>T (p.Arg2179Trp) rs764921928 0.00002
NM_006946.4(SPTBN2):c.704A>G (p.Tyr235Cys) rs748088213 0.00002
NM_006946.4(SPTBN2):c.971C>T (p.Thr324Met) rs766259767 0.00002
NM_006946.4(SPTBN2):c.1129C>T (p.Arg377Trp) rs199861592 0.00001
NM_006946.4(SPTBN2):c.1214C>T (p.Ala405Val) rs1226702717 0.00001
NM_006946.4(SPTBN2):c.1511C>G (p.Ala504Gly) rs1454805342 0.00001
NM_006946.4(SPTBN2):c.2161C>T (p.Arg721Cys) rs757150924 0.00001
NM_006946.4(SPTBN2):c.3607A>G (p.Thr1203Ala) rs1196577719 0.00001
NM_006946.4(SPTBN2):c.3938A>C (p.His1313Pro) rs748517894 0.00001
NM_006946.4(SPTBN2):c.4433G>A (p.Arg1478Gln) rs761295502 0.00001
NM_006946.4(SPTBN2):c.4922C>T (p.Ala1641Val) rs376009552 0.00001
NM_006946.4(SPTBN2):c.5102G>A (p.Arg1701His) rs907900432 0.00001
NM_006946.4(SPTBN2):c.5150C>T (p.Ala1717Val) rs376579703 0.00001
NM_006946.4(SPTBN2):c.5341G>A (p.Glu1781Lys) rs777756110 0.00001
NM_006946.4(SPTBN2):c.6547C>G (p.Gln2183Glu) rs760467359 0.00001
NM_006946.4(SPTBN2):c.6679C>T (p.Arg2227Cys) rs1057524207 0.00001
NM_006946.4(SPTBN2):c.1447G>A (p.Ala483Thr)
NM_006946.4(SPTBN2):c.1642G>A (p.Glu548Lys)
NM_006946.4(SPTBN2):c.1897C>T (p.Arg633Trp)
NM_006946.4(SPTBN2):c.189C>G (p.Phe63Leu) rs2135526260
NM_006946.4(SPTBN2):c.2090T>C (p.Leu697Pro)
NM_006946.4(SPTBN2):c.2369G>A (p.Arg790Gln) rs750536532
NM_006946.4(SPTBN2):c.2768C>G (p.Pro923Arg)
NM_006946.4(SPTBN2):c.2895dup (p.Glu966fs) rs1554982890
NM_006946.4(SPTBN2):c.3136G>A (p.Gly1046Ser)
NM_006946.4(SPTBN2):c.3235G>C (p.Ala1079Pro) rs1162803458
NM_006946.4(SPTBN2):c.3263T>A (p.Val1088Glu)
NM_006946.4(SPTBN2):c.3404A>C (p.Gln1135Pro) rs751211496
NM_006946.4(SPTBN2):c.3514C>T (p.His1172Tyr)
NM_006946.4(SPTBN2):c.3679C>T (p.Arg1227Trp)
NM_006946.4(SPTBN2):c.3979G>A (p.Ala1327Thr) rs2135397129
NM_006946.4(SPTBN2):c.4496A>T (p.Asp1499Val) rs1940755126
NM_006946.4(SPTBN2):c.469A>T (p.Ile157Phe) rs2135521053
NM_006946.4(SPTBN2):c.5090G>A (p.Cys1697Tyr) rs1161277822
NM_006946.4(SPTBN2):c.5094G>C (p.Gln1698His)
NM_006946.4(SPTBN2):c.523A>G (p.Lys175Glu)
NM_006946.4(SPTBN2):c.5635G>A (p.Gly1879Ser)
NM_006946.4(SPTBN2):c.6166G>A (p.Glu2056Lys)
NM_006946.4(SPTBN2):c.6352G>A (p.Ala2118Thr) rs1940274862
NM_006946.4(SPTBN2):c.6365C>T (p.Thr2122Ile)
NM_006946.4(SPTBN2):c.6601G>A (p.Glu2201Lys) rs1256781556
NM_006946.4(SPTBN2):c.6775A>G (p.Lys2259Glu)
NM_006946.4(SPTBN2):c.7133_7134del (p.Glu2378fs)
NM_006946.4(SPTBN2):c.725A>G (p.Asn242Ser) rs1941997379
NM_006946.4(SPTBN2):c.774C>G (p.Asp258Glu) rs139240091
NM_006946.4(SPTBN2):c.833A>C (p.His278Pro) rs2135491194

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.