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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 98

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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.1844G>A (p.Arg615Gln)	rs768742849	0.00002
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.1615G>A (p.Asp539Asn)
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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