List of variants in gene CAMTA1 studied for cerebellar ataxia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 159

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HGVS	dbSNP	gnomAD frequency
NM_015215.4(CAMTA1):c.4884-121A>G	rs9919223	0.70554
NM_015215.4(CAMTA1):c.4690-44A>G	rs10779689	0.68851
NM_015215.4(CAMTA1):c.4689+56A>G	rs12133253	0.67987
NM_015215.4(CAMTA1):c.3658+104T>A	rs1417986	0.62279
NM_015215.4(CAMTA1):c.510+35T>C	rs1201529	0.56733
NM_015215.4(CAMTA1):c.2914+6A>G	rs3011926	0.55520
NM_015215.4(CAMTA1):c.3531C>G (p.Asn1177Lys)	rs41278952	0.09746
NM_015215.4(CAMTA1):c.3653A>C (p.Asn1218Thr)	rs41278954	0.00753
NM_015215.4(CAMTA1):c.2730A>G (p.Ser910=)	rs6674962	0.00613
NM_015215.4(CAMTA1):c.986A>G (p.Lys329Arg)	rs151133441	0.00433
NM_015215.4(CAMTA1):c.3066+20C>T	rs147462930	0.00264
NM_015215.4(CAMTA1):c.1955C>T (p.Ser652Leu)	rs144242373	0.00137
NM_015215.4(CAMTA1):c.3273C>T (p.His1091=)	rs139526435	0.00088
NM_015215.4(CAMTA1):c.3471G>A (p.Val1157=)	rs151130353	0.00051
NM_015215.4(CAMTA1):c.2120C>G (p.Ser707Cys)	rs141259598	0.00046
NM_015215.4(CAMTA1):c.1326C>T (p.Phe442=)	rs141193119	0.00019
NM_015215.4(CAMTA1):c.1559G>A (p.Arg520Gln)	rs138288107	0.00016
NM_015215.4(CAMTA1):c.806-11G>A	rs200922493	0.00014
NM_015215.4(CAMTA1):c.2190C>T (p.Ala730=)	rs191079752	0.00013
NM_015215.4(CAMTA1):c.718G>A (p.Val240Met)	rs755920468	0.00005
NM_015215.4(CAMTA1):c.2223G>A (p.Val741=)	rs747383026	0.00004
NM_015215.4(CAMTA1):c.4478C>T (p.Ala1493Val)	rs147636995	0.00004
NM_015215.4(CAMTA1):c.4977G>T (p.Arg1659Ser)	rs373331254	0.00004
NM_015215.4(CAMTA1):c.439-60758C>T	rs997317904	0.00003
NM_015215.4(CAMTA1):c.1618G>A (p.Glu540Lys)	rs200732212	0.00002
NM_015215.4(CAMTA1):c.2003C>A (p.Ser668Tyr)	rs2095986041	0.00001
NM_015215.4(CAMTA1):c.2227G>A (p.Gly743Arg)	rs965685976	0.00001
NM_015215.4(CAMTA1):c.234+5A>T	rs547105933	0.00001
NM_015215.4(CAMTA1):c.2974G>A (p.Glu992Lys)	rs774307423	0.00001
NM_015215.4(CAMTA1):c.940G>A (p.Glu314Lys)	rs758739555	0.00001
NC_000001.10:g.6882372_7422115dup
NC_000001.10:g.7119268_7200395del
NC_000001.9:g.6777038_6826186del
NM_015215.4(CAMTA1):c.1024G>A (p.Glu342Lys)
NM_015215.4(CAMTA1):c.1044G>A (p.Gln348=)
NM_015215.4(CAMTA1):c.1079T>G (p.Val360Gly)
NM_015215.4(CAMTA1):c.1105G>A (p.Asp369Asn)
NM_015215.4(CAMTA1):c.1128G>A (p.Pro376=)
NM_015215.4(CAMTA1):c.1171G>A (p.Gly391Arg)
NM_015215.4(CAMTA1):c.1187G>A (p.Ser396Asn)	rs2095980355
NM_015215.4(CAMTA1):c.1202T>C (p.Met401Thr)
NM_015215.4(CAMTA1):c.1223C>A (p.Ala408Asp)
NM_015215.4(CAMTA1):c.1224C>T (p.Ala408=)
NM_015215.4(CAMTA1):c.1350G>A (p.Ser450=)	rs12128526
NM_015215.4(CAMTA1):c.1377C>T (p.Asn459=)
NM_015215.4(CAMTA1):c.1378G>A (p.Val460Met)
NM_015215.4(CAMTA1):c.1455dup (p.Asp486fs)	rs2095982231
NM_015215.4(CAMTA1):c.1456G>A (p.Asp486Asn)
NM_015215.4(CAMTA1):c.1514C>G (p.Ala505Gly)
NM_015215.4(CAMTA1):c.1521_1528del (p.Met507fs)
NM_015215.4(CAMTA1):c.154T>A (p.Phe52Ile)	rs879255532
NM_015215.4(CAMTA1):c.1580T>G (p.Val527Gly)
NM_015215.4(CAMTA1):c.1690G>A (p.Ala564Thr)
NM_015215.4(CAMTA1):c.174T>G (p.Leu58=)
NM_015215.4(CAMTA1):c.1762G>A (p.Ala588Thr)
NM_015215.4(CAMTA1):c.1798dup (p.Ser600fs)
NM_015215.4(CAMTA1):c.180_183del (p.Leu61fs)	rs2148504421
NM_015215.4(CAMTA1):c.1828C>T (p.Gln610Ter)
NM_015215.4(CAMTA1):c.1892C>A (p.Thr631Asn)
NM_015215.4(CAMTA1):c.1927G>A (p.Val643Met)
NM_015215.4(CAMTA1):c.1947G>A (p.Thr649=)
NM_015215.4(CAMTA1):c.1998C>G (p.Ile666Met)	rs141192116
NM_015215.4(CAMTA1):c.1999G>A (p.Glu667Lys)
NM_015215.4(CAMTA1):c.2072_2075del (p.Thr691fs)
NM_015215.4(CAMTA1):c.2084C>T (p.Ser695Leu)
NM_015215.4(CAMTA1):c.2210C>T (p.Pro737Leu)
NM_015215.4(CAMTA1):c.2235C>A (p.Tyr745Ter)
NM_015215.4(CAMTA1):c.2272A>T (p.Met758Leu)
NM_015215.4(CAMTA1):c.229A>G (p.Asn77Asp)	rs1557636777
NM_015215.4(CAMTA1):c.234+62447C>T
NM_015215.4(CAMTA1):c.2416_2419del (p.Ser806fs)
NM_015215.4(CAMTA1):c.241G>A (p.Ala81Thr)
NM_015215.4(CAMTA1):c.2431C>T (p.Arg811Trp)
NM_015215.4(CAMTA1):c.2452G>T (p.Glu818Ter)
NM_015215.4(CAMTA1):c.2460C>A (p.Cys820Ter)
NM_015215.4(CAMTA1):c.2470T>C (p.Cys824Arg)	rs2095989201
NM_015215.4(CAMTA1):c.2473A>G (p.Ser825Gly)	rs765488241
NM_015215.4(CAMTA1):c.249_252del (p.Ala82_Tyr83insTer)	rs1641438649
NM_015215.4(CAMTA1):c.2521A>C (p.Ser841Arg)
NM_015215.4(CAMTA1):c.2585G>C (p.Gly862Ala)
NM_015215.4(CAMTA1):c.2605C>T (p.Arg869Trp)
NM_015215.4(CAMTA1):c.2616G>A (p.Met872Ile)
NM_015215.4(CAMTA1):c.2639G>A (p.Trp880Ter)	rs1576691273
NM_015215.4(CAMTA1):c.2685G>A (p.Trp895Ter)	rs2149221667
NM_015215.4(CAMTA1):c.2685_2686dup (p.Gln896fs)
NM_015215.4(CAMTA1):c.2687A>G (p.Gln896Arg)
NM_015215.4(CAMTA1):c.2697C>T (p.Ser899=)
NM_015215.4(CAMTA1):c.2779+5G>A	rs2149222075
NM_015215.4(CAMTA1):c.2780-8G>A
NM_015215.4(CAMTA1):c.2810T>C (p.Val937Ala)	rs2096135808
NM_015215.4(CAMTA1):c.281T>A (p.Leu94Gln)
NM_015215.4(CAMTA1):c.2840C>T (p.Ser947Leu)	rs113652510
NM_015215.4(CAMTA1):c.2860G>A (p.Ala954Thr)
NM_015215.4(CAMTA1):c.2863C>T (p.Arg955Trp)	rs1135401818
NM_015215.4(CAMTA1):c.2867C>T (p.Ala956Val)
NM_015215.4(CAMTA1):c.2907G>A (p.Ser969=)
NM_015215.4(CAMTA1):c.2914+2448del
NM_015215.4(CAMTA1):c.2981C>G (p.Thr994Arg)
NM_015215.4(CAMTA1):c.3025G>A (p.Gly1009Arg)
NM_015215.4(CAMTA1):c.3142C>T (p.Arg1048Ter)	rs2149989087
NM_015215.4(CAMTA1):c.3230A>G (p.Tyr1077Cys)	rs863224853
NM_015215.4(CAMTA1):c.3350C>T (p.Ala1117Val)
NM_015215.4(CAMTA1):c.3356C>T (p.Ala1119Val)	rs1577305812
NM_015215.4(CAMTA1):c.3414G>A (p.Ser1138=)
NM_015215.4(CAMTA1):c.3427C>A (p.Leu1143Ile)
NM_015215.4(CAMTA1):c.3457T>C (p.Ser1153Pro)
NM_015215.4(CAMTA1):c.3521T>C (p.Leu1174Pro)
NM_015215.4(CAMTA1):c.3532C>G (p.Pro1178Ala)
NM_015215.4(CAMTA1):c.3547C>T (p.Pro1183Ser)
NM_015215.4(CAMTA1):c.3585_3592del (p.Trp1197fs)	rs2096780961
NM_015215.4(CAMTA1):c.363del (p.Tyr122fs)	rs2149302921
NM_015215.4(CAMTA1):c.3655C>G (p.Pro1219Ala)
NM_015215.4(CAMTA1):c.404A>G (p.Glu135Gly)	rs2149303084
NM_015215.4(CAMTA1):c.4187A>C (p.Asn1396Thr)
NM_015215.4(CAMTA1):c.4220C>G (p.Ala1407Gly)
NM_015215.4(CAMTA1):c.4223C>T (p.Thr1408Ile)	rs1435279555
NM_015215.4(CAMTA1):c.4231C>T (p.Arg1411Ter)	rs886041635
NM_015215.4(CAMTA1):c.423G>C (p.Lys141Asn)	rs1666321359
NM_015215.4(CAMTA1):c.4287C>A (p.Asp1429Glu)
NM_015215.4(CAMTA1):c.4363C>T (p.Gln1455Ter)
NM_015215.4(CAMTA1):c.438+1G>A
NM_015215.4(CAMTA1):c.4384G>A (p.Glu1462Lys)
NM_015215.4(CAMTA1):c.4399TCT[1] (p.Ser1468del)
NM_015215.4(CAMTA1):c.4401T>C (p.Ser1467=)
NM_015215.4(CAMTA1):c.4418G>A (p.Ser1473Asn)	rs776553769
NM_015215.4(CAMTA1):c.4435G>T (p.Val1479Phe)
NM_015215.4(CAMTA1):c.4446C>A (p.Ile1482=)
NM_015215.4(CAMTA1):c.4453G>A (p.Glu1485Lys)	rs2096854165
NM_015215.4(CAMTA1):c.4489G>C (p.Glu1497Gln)
NM_015215.4(CAMTA1):c.4511G>A (p.Ser1504Asn)
NM_015215.4(CAMTA1):c.4618-1G>A
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter)	rs2096866595
NM_015215.4(CAMTA1):c.4622G>T (p.Arg1541Leu)
NM_015215.4(CAMTA1):c.4666C>T (p.Arg1556Cys)
NM_015215.4(CAMTA1):c.4674C>G (p.Tyr1558Ter)	rs2096866859
NM_015215.4(CAMTA1):c.4690-2A>G
NM_015215.4(CAMTA1):c.4744C>T (p.Arg1582Ter)	rs2150160606
NM_015215.4(CAMTA1):c.4759C>T (p.Gln1587Ter)	rs2150160765
NM_015215.4(CAMTA1):c.4767del (p.Lys1589fs)	rs754008719
NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter)	rs1553280067
NM_015215.4(CAMTA1):c.4990-3503A>C	rs2150309041
NM_015215.4(CAMTA1):c.511-18459_511-15460del
NM_015215.4(CAMTA1):c.511-22_511-19del	rs2095751767
NM_015215.4(CAMTA1):c.576C>T (p.Cys192=)
NM_015215.4(CAMTA1):c.596_598del (p.Ile199del)
NM_015215.4(CAMTA1):c.627del (p.Lys208_Trp209insTer)	rs1085307743
NM_015215.4(CAMTA1):c.638A>C (p.Glu213Ala)
NM_015215.4(CAMTA1):c.646G>T (p.Gly216Trp)
NM_015215.4(CAMTA1):c.699C>G (p.Asn233Lys)
NM_015215.4(CAMTA1):c.782A>G (p.Asn261Ser)
NM_015215.4(CAMTA1):c.800del (p.Ser267fs)	rs1553238311
NM_015215.4(CAMTA1):c.806-5C>T
NM_015215.4(CAMTA1):c.809C>T (p.Ala270Val)	rs2149152505
NM_015215.4(CAMTA1):c.838_839del (p.Ser280fs)
NM_015215.4(CAMTA1):c.838del (p.Ser280fs)	rs1064796146
NM_015215.4(CAMTA1):c.851G>A (p.Arg284His)	rs767725186
NM_015215.4(CAMTA1):c.882del (p.Tyr297fs)	rs886041999
NM_015215.4(CAMTA1):c.927G>A (p.Ser309=)
NM_015215.4(CAMTA1):c.968G>A (p.Arg323His)

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