ClinVar Miner

List of variants in gene SPTBN2 studied for Spinocerebellar ataxia type 5

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Gene type:
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Total variants: 80
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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.3101T>C (p.Val1034Ala) rs506028 0.15920
NM_006946.4(SPTBN2):c.585C>T (p.Asn195=) rs34775878 0.08024
NM_006946.4(SPTBN2):c.2473= (p.Ser825=) rs4930388 0.01249
NM_006946.4(SPTBN2):c.885+5T>C rs114331192 0.01156
NM_006946.4(SPTBN2):c.7020G>A (p.Pro2340=) rs61741217 0.00966
NM_006946.4(SPTBN2):c.285C>T (p.Leu95=) rs34117933 0.00956
NM_006946.4(SPTBN2):c.4985+11C>T rs11227572 0.00707
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.1416G>A (p.Thr472=) rs145249947 0.00245
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.4985+12G>A rs199692345 0.00098
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918 0.00077
NM_006946.4(SPTBN2):c.3116G>A (p.Arg1039Gln) rs148826890 0.00067
NM_006946.4(SPTBN2):c.-22-10C>A rs200435327 0.00054
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.1522A>C (p.Asn508His) rs767775507 0.00005
NM_006946.4(SPTBN2):c.6035-12C>T rs2276137 0.00004
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His) rs772590586 0.00003
NM_006946.4(SPTBN2):c.1323C>T (p.Leu441=) rs764447133 0.00002
NM_006946.4(SPTBN2):c.5066G>A (p.Arg1689His) rs764884402 0.00002
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln) rs759206588 0.00002
NM_006946.4(SPTBN2):c.6739T>C (p.Tyr2247His) rs201138924 0.00002
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln) rs753491527 0.00001
NM_006946.4(SPTBN2):c.2558C>T (p.Ala853Val) rs773989387 0.00001
NM_006946.4(SPTBN2):c.2996G>A (p.Arg999His) rs769417045 0.00001
NM_006946.4(SPTBN2):c.3867+3G>T rs753473374 0.00001
NM_006946.4(SPTBN2):c.4279-8G>A rs369614446 0.00001
NM_006946.4(SPTBN2):c.4986-5T>G rs1371679359 0.00001
NM_006946.4(SPTBN2):c.6169G>T (p.Ala2057Ser) rs1940323398 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.6736G>A (p.Val2246Met) rs369469000 0.00001
NM_006946.4(SPTBN2):c.6897-4A>G rs1262014282 0.00001
NM_006946.4(SPTBN2):c.773-5T>C rs1941832250 0.00001
NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro) rs541484241
NM_006946.4(SPTBN2):c.1081G>A (p.Glu361Lys)
NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del) rs1590955348
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr) rs1554986345
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp) rs1941669517
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln) rs1554986337
NM_006946.4(SPTBN2):c.1351-7G>A rs116078747
NM_006946.4(SPTBN2):c.1351-7G>T rs116078747
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) rs397514749
NM_006946.4(SPTBN2):c.1472T>G (p.Leu491Arg)
NM_006946.4(SPTBN2):c.1549C>G (p.Arg517Gly) rs371919862
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del) rs1554985851
NM_006946.4(SPTBN2):c.185C>T (p.Thr62Ile)
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_006946.4(SPTBN2):c.1886_1900del (p.Leu629_Arg634delinsTrp) rs1941485201
NM_006946.4(SPTBN2):c.193A>C (p.Lys65Gln) rs2135526204
NM_006946.4(SPTBN2):c.2012G>A (p.Arg671Gln) rs1443491358
NM_006946.4(SPTBN2):c.2191C>T (p.Arg731Trp)
NM_006946.4(SPTBN2):c.309+36T>C rs12805133
NM_006946.4(SPTBN2):c.3236C>T (p.Ala1079Val) rs763021473
NM_006946.4(SPTBN2):c.3777-3C>G
NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val) rs1940772032
NM_006946.4(SPTBN2):c.470T>C (p.Ile157Thr) rs875989881
NM_006946.4(SPTBN2):c.478T>C (p.Phe160Leu)
NM_006946.4(SPTBN2):c.5459AGC[5] (p.Gln1823dup) rs1940534700
NM_006946.4(SPTBN2):c.5504C>T (p.Ala1835Val) rs1940531426
NM_006946.4(SPTBN2):c.5581del (p.Asp1861fs)
NM_006946.4(SPTBN2):c.571G>T (p.Ala191Ser)
NM_006946.4(SPTBN2):c.5974C>T (p.Gln1992Ter) rs2135319250
NM_006946.4(SPTBN2):c.6688G>C (p.Glu2230Gln) rs1940196069
NM_006946.4(SPTBN2):c.7040G>A (p.Arg2347Gln)
NM_006946.4(SPTBN2):c.7044del (p.Gly2348_Met2349insTer)
NM_006946.4(SPTBN2):c.7096C>T (p.Pro2366Ser) rs1940076802
NM_006946.4(SPTBN2):c.7103T>C (p.Val2368Ala) rs1940076270
NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro) rs121918306
NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile) rs1941829953
NM_006946.4(SPTBN2):c.901A>G (p.Met301Val) rs897181468

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