ClinVar Miner

List of variants in gene CAMTA1 studied for cerebellar disorder

Included ClinVar conditions (275):
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Gene type:
ClinVar version:
Total variants: 101
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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.1559G>A (p.Arg520Gln) rs138288107 0.00016
NM_015215.4(CAMTA1):c.806-11G>A rs200922493 0.00014
NM_015215.4(CAMTA1):c.718G>A (p.Val240Met) rs755920468 0.00005
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.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.1105G>A (p.Asp369Asn)
NM_015215.4(CAMTA1):c.1187G>A (p.Ser396Asn) rs2095980355
NM_015215.4(CAMTA1):c.1350G>A (p.Ser450=) rs12128526
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.1690G>A (p.Ala564Thr)
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.1927G>A (p.Val643Met)
NM_015215.4(CAMTA1):c.2210C>T (p.Pro737Leu)
NM_015215.4(CAMTA1):c.2235C>A (p.Tyr745Ter)
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.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.2585G>C (p.Gly862Ala)
NM_015215.4(CAMTA1):c.2605C>T (p.Arg869Trp)
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.2687A>G (p.Gln896Arg)
NM_015215.4(CAMTA1):c.2779+5G>A rs2149222075
NM_015215.4(CAMTA1):c.2810T>C (p.Val937Ala) rs2096135808
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.2981C>G (p.Thr994Arg)
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.3356C>T (p.Ala1119Val) rs1577305812
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.404A>G (p.Glu135Gly) rs2149303084
NM_015215.4(CAMTA1):c.4187A>C (p.Asn1396Thr)
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.438+1G>A
NM_015215.4(CAMTA1):c.4418G>A (p.Ser1473Asn) rs776553769
NM_015215.4(CAMTA1):c.4435G>T (p.Val1479Phe)
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.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.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.627del (p.Lys208_Trp209insTer) rs1085307743
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.809C>T (p.Ala270Val) rs2149152505
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

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