ClinVar Miner

List of variants in gene SPTBN2 reported as uncertain significance for cerebellar degeneration

Included ClinVar conditions (79):
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Gene type:
ClinVar version:
Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_006946.4(SPTBN2):c.*71G>A rs572522164 0.00125
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.1456G>A (p.Ala486Thr) rs143155918 0.00077
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.*121A>G rs554283435 0.00034
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361 0.00031
NM_006946.4(SPTBN2):c.-56C>T rs527588843 0.00029
NM_006946.4(SPTBN2):c.6242G>A (p.Arg2081Gln) rs764407421 0.00028
NM_006946.4(SPTBN2):c.2064C>T (p.Gly688=) rs376219874 0.00021
NM_006946.4(SPTBN2):c.406A>G (p.Met136Val) rs150610657 0.00012
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His) rs145522851 0.00011
NM_006946.4(SPTBN2):c.968A>G (p.Gln323Arg) rs190532690 0.00010
NM_006946.4(SPTBN2):c.*61G>A rs566929715 0.00009
NM_006946.4(SPTBN2):c.1479C>T (p.Ala493=) rs150837212 0.00009
NM_006946.4(SPTBN2):c.2834G>A (p.Arg945His) rs377663856 0.00009
NM_006946.4(SPTBN2):c.6940-11T>C rs551276248 0.00009
NM_006946.4(SPTBN2):c.5692G>A (p.Ala1898Thr) rs759505522 0.00008
NM_006946.4(SPTBN2):c.5884C>T (p.Arg1962Cys) rs200370228 0.00008
NM_006946.4(SPTBN2):c.3194G>A (p.Arg1065Gln) rs753324919 0.00007
NM_006946.4(SPTBN2):c.6528T>C (p.Asn2176=) rs371535973 0.00006
NM_006946.4(SPTBN2):c.1522A>C (p.Asn508His) rs767775507 0.00005
NM_006946.4(SPTBN2):c.2162G>A (p.Arg721His) rs200016211 0.00005
NM_006946.4(SPTBN2):c.3823C>T (p.Arg1275Trp) rs148878156 0.00005
NM_006946.4(SPTBN2):c.4120G>A (p.Ala1374Thr) rs199675740 0.00005
NM_006946.4(SPTBN2):c.*228dup rs886048544 0.00004
NM_006946.4(SPTBN2):c.1281C>T (p.Ala427=) rs374787500 0.00004
NM_006946.4(SPTBN2):c.1720G>A (p.Glu574Lys) rs372241839 0.00004
NM_006946.4(SPTBN2):c.3795C>T (p.Asp1265=) rs141779130 0.00004
NM_006946.4(SPTBN2):c.5804G>A (p.Arg1935His) rs145750214 0.00004
NM_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr) rs773129687 0.00004
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His) rs772590586 0.00003
NM_006946.4(SPTBN2):c.1839G>A (p.Ser613=) rs774265056 0.00003
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=) rs778388054 0.00003
NM_006946.4(SPTBN2):c.3048C>T (p.Gly1016=) rs540897209 0.00002
NM_006946.4(SPTBN2):c.4330G>A (p.Ala1444Thr) rs765561071 0.00002
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln) rs759206588 0.00002
NM_006946.4(SPTBN2):c.6566C>T (p.Pro2189Leu) rs376249009 0.00002
NM_006946.4(SPTBN2):c.6739T>C (p.Tyr2247His) rs201138924 0.00002
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp) rs746195427 0.00002
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln) rs753491527 0.00001
NM_006946.4(SPTBN2):c.2216G>A (p.Arg739His) rs372938259 0.00001
NM_006946.4(SPTBN2):c.2412C>T (p.Asp804=) rs770555771 0.00001
NM_006946.4(SPTBN2):c.2558C>T (p.Ala853Val) rs773989387 0.00001
NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys) rs145702618 0.00001
NM_006946.4(SPTBN2):c.2685G>A (p.Glu895=) rs758091474 0.00001
NM_006946.4(SPTBN2):c.2996G>A (p.Arg999His) rs769417045 0.00001
NM_006946.4(SPTBN2):c.3453A>G (p.Gly1151=) rs768932281 0.00001
NM_006946.4(SPTBN2):c.3867+3G>T rs753473374 0.00001
NM_006946.4(SPTBN2):c.3972C>T (p.Ala1324=) rs886048550 0.00001
NM_006946.4(SPTBN2):c.4714C>T (p.Arg1572Cys) rs368125962 0.00001
NM_006946.4(SPTBN2):c.4986-5T>G rs1371679359 0.00001
NM_006946.4(SPTBN2):c.5248C>A (p.Arg1750Ser) rs886048548 0.00001
NM_006946.4(SPTBN2):c.54G>A (p.Gln18=) rs377573278 0.00001
NM_006946.4(SPTBN2):c.57C>T (p.Tyr19=) rs749188722 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.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.6757G>A (p.Gly2253Arg) rs201670045 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.1081G>A (p.Glu361Lys)
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.1827G>T (p.Pro609=) rs776570497
NM_006946.4(SPTBN2):c.185C>T (p.Thr62Ile)
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_006946.4(SPTBN2):c.2012G>A (p.Arg671Gln) rs1443491358
NM_006946.4(SPTBN2):c.207G>T (p.Ser69=) rs748341964
NM_006946.4(SPTBN2):c.2191C>T (p.Arg731Trp)
NM_006946.4(SPTBN2):c.2445C>T (p.Pro815=) rs766115824
NM_006946.4(SPTBN2):c.3236C>T (p.Ala1079Val) rs763021473
NM_006946.4(SPTBN2):c.3765C>T (p.Ser1255=) rs886048551
NM_006946.4(SPTBN2):c.3777-3C>G
NM_006946.4(SPTBN2):c.476G>A (p.Arg159Gln) rs886048552
NM_006946.4(SPTBN2):c.478T>C (p.Phe160Leu)
NM_006946.4(SPTBN2):c.5056C>G (p.Arg1686Gly) rs368373337
NM_006946.4(SPTBN2):c.5067C>A (p.Arg1689=) rs886048549
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.571G>T (p.Ala191Ser)
NM_006946.4(SPTBN2):c.5871G>C (p.Glu1957Asp) rs886048547
NM_006946.4(SPTBN2):c.6220A>C (p.Lys2074Gln) rs541138596
NM_006946.4(SPTBN2):c.6431C>T (p.Thr2144Ile) rs886048546
NM_006946.4(SPTBN2):c.6674T>C (p.Leu2225Pro) rs886048545
NM_006946.4(SPTBN2):c.6688G>C (p.Glu2230Gln) rs1940196069
NM_006946.4(SPTBN2):c.6735C>T (p.Asn2245=) rs750664912
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.901A>G (p.Met301Val) rs897181468

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