ClinVar Miner

List of variants in gene SPTBN2 studied for autosomal recessive spinocerebellar ataxia 14

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.2473A>G (p.Ser825Gly) rs4930388 0.98751
NM_006946.4(SPTBN2):c.657-47G>A rs615536 0.89277
NM_006946.4(SPTBN2):c.2816+23A>G rs532439 0.72382
NM_006946.4(SPTBN2):c.885+5T>C rs114331192 0.01156
NM_006946.4(SPTBN2):c.4985+11C>T rs11227572 0.00707
NM_006946.4(SPTBN2):c.6669G>A (p.Gly2223=) rs138819654 0.00560
NM_006946.4(SPTBN2):c.6723-14C>T rs186232313 0.00525
NM_006946.4(SPTBN2):c.5950-8G>A rs201759431 0.00277
NM_006946.4(SPTBN2):c.6896+11G>A rs141969559 0.00203
NM_006946.4(SPTBN2):c.1654-13G>A rs200980512 0.00134
NM_006946.4(SPTBN2):c.1807+13C>T rs151122248 0.00132
NM_006946.4(SPTBN2):c.4985+12G>A rs199692345 0.00098
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_006946.4(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210 0.00056
NM_006946.4(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428 0.00056
NM_006946.4(SPTBN2):c.-22-10C>A rs200435327 0.00054
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.7109G>A (p.Arg2370His) rs145522851 0.00011
NM_006946.4(SPTBN2):c.5950-9C>T rs554781314 0.00008
NM_006946.4(SPTBN2):c.1653+13C>T rs376349935 0.00006
NM_006946.4(SPTBN2):c.1895C>T (p.Ala632Val) rs757932120 0.00005
NM_006946.4(SPTBN2):c.6035-12C>T rs2276137 0.00004
NM_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr) rs773129687 0.00004
NM_006946.4(SPTBN2):c.5939C>A (p.Ala1980Glu) rs750934185 0.00003
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=) rs778388054 0.00003
NM_006946.4(SPTBN2):c.3929G>A (p.Arg1310His) rs201852582 0.00002
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp) rs746195427 0.00002
NM_006946.4(SPTBN2):c.1843C>T (p.Arg615Trp) rs1207850001 0.00001
NM_006946.4(SPTBN2):c.2216G>A (p.Arg739His) rs372938259 0.00001
NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys) rs145702618 0.00001
NM_006946.4(SPTBN2):c.4279-8G>A rs369614446 0.00001
NM_006946.4(SPTBN2):c.5611G>A (p.Ala1871Thr) rs752677090 0.00001
NM_006946.4(SPTBN2):c.6109C>T (p.Arg2037Cys) rs200529832 0.00001
NM_006946.4(SPTBN2):c.6374+15G>A rs777633339 0.00001
NM_006946.4(SPTBN2):c.6502-9C>T rs545190212 0.00001
NM_006946.4(SPTBN2):c.657-7C>G rs758925003 0.00001
NM_006946.4(SPTBN2):c.6723-11G>A rs758435668 0.00001
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met) rs750623875 0.00001
NM_006946.4(SPTBN2):c.6897-4A>G rs1262014282 0.00001
NM_006946.4(SPTBN2):c.1154C>T (p.Thr385Met)
NM_006946.4(SPTBN2):c.1240C>T (p.Arg414Cys) rs1318256630
NM_006946.4(SPTBN2):c.1351-7G>A rs116078747
NM_006946.4(SPTBN2):c.1351-7G>T rs116078747
NM_006946.4(SPTBN2):c.1370T>C (p.Leu457Pro) rs1590954146
NM_006946.4(SPTBN2):c.157+1G>A rs2135558909
NM_006946.4(SPTBN2):c.1881C>A (p.Cys627Ter) rs146859515
NM_006946.4(SPTBN2):c.2330dup (p.His777fs)
NM_006946.4(SPTBN2):c.254T>C (p.Leu85Pro)
NM_006946.4(SPTBN2):c.2864_2868del (p.Thr955fs) rs373728971
NM_006946.4(SPTBN2):c.309+36T>C rs12805133
NM_006946.4(SPTBN2):c.3091G>A (p.Ala1031Thr)
NM_006946.4(SPTBN2):c.3475C>T (p.Arg1159Ter)
NM_006946.4(SPTBN2):c.3479T>C (p.Met1160Thr)
NM_006946.4(SPTBN2):c.4496A>T (p.Asp1499Val) rs1940755126
NM_006946.4(SPTBN2):c.5056C>G (p.Arg1686Gly) rs368373337
NM_006946.4(SPTBN2):c.584A>G (p.Asn195Ser)
NM_006946.4(SPTBN2):c.5991_5992del (p.Glu1997fs) rs1590911156
NM_006946.4(SPTBN2):c.6230C>T (p.Ala2077Val)

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.