ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=) rs372240227 0.00029
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His) rs727503832 0.00017
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met) rs778274864 0.00015
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=) rs376684786 0.00014
NM_001127222.2(CACNA1A):c.924G>A (p.Val308=) rs754935637 0.00011
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn) rs368257155 0.00010
NM_001127222.2(CACNA1A):c.6694C>T (p.Arg2232Trp) rs751926317 0.00009
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr) rs201666606 0.00006
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412 0.00006
NM_001127222.2(CACNA1A):c.6190-3C>A rs368480650 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001127222.2(CACNA1A):c.6922G>A (p.Gly2308Ser) rs758924907 0.00006
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001127222.2(CACNA1A):c.2982_2987dup (p.Gly995_Pro996dup) rs995883431 0.00004
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser) rs775079932 0.00004
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile) rs373224251 0.00004
NM_001127222.2(CACNA1A):c.3622G>A (p.Asp1208Asn) rs750231498 0.00004
NM_001127222.2(CACNA1A):c.4879G>A (p.Asp1627Asn) rs573209959 0.00004
NM_001127222.2(CACNA1A):c.6235G>A (p.Glu2079Lys) rs752513542 0.00004
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp) rs1032588483 0.00004
NM_001127222.2(CACNA1A):c.7144G>T (p.Ala2382Ser) rs763992341 0.00004
NM_001127222.2(CACNA1A):c.7306G>A (p.Ala2436Thr) rs754573556 0.00004
NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg) rs765523382 0.00004
NM_001127222.2(CACNA1A):c.1369A>G (p.Ile457Val) rs774203605 0.00003
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met) rs771104002 0.00003
NM_001127222.2(CACNA1A):c.5940+4C>T rs749339070 0.00003
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met) rs563345694 0.00003
NM_001127222.2(CACNA1A):c.6317G>A (p.Arg2106Gln) rs373229577 0.00003
NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp) rs756780624 0.00003
NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys) rs1189054127 0.00002
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=) rs758409135 0.00002
NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=) rs368203745 0.00002
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala) rs141963371 0.00002
NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu) rs539347883 0.00002
NM_001127222.2(CACNA1A):c.6346T>G (p.Ser2116Ala) rs576057388 0.00002
NM_001127222.2(CACNA1A):c.6460C>T (p.Arg2154Trp) rs1374160355 0.00002
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130 0.00002
NM_001127222.2(CACNA1A):c.6506G>A (p.Arg2169His) rs1417890059 0.00002
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala) rs1028538547 0.00002
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp) rs773593740 0.00001
NM_001127222.2(CACNA1A):c.1559A>G (p.Tyr520Cys) rs886039322 0.00001
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile) rs756562814 0.00001
NM_001127222.2(CACNA1A):c.2198C>T (p.Ala733Val) rs1335209785 0.00001
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) rs760816963 0.00001
NM_001127222.2(CACNA1A):c.2521G>T (p.Ala841Ser) rs1057522204 0.00001
NM_001127222.2(CACNA1A):c.26C>T (p.Pro9Leu) rs1487101039 0.00001
NM_001127222.2(CACNA1A):c.2827C>T (p.Arg943Cys) rs754979047 0.00001
NM_001127222.2(CACNA1A):c.2852C>T (p.Ala951Val) rs1442995931 0.00001
NM_001127222.2(CACNA1A):c.2905C>G (p.Pro969Ala) rs773766180 0.00001
NM_001127222.2(CACNA1A):c.3052C>T (p.Arg1018Trp) rs772611976 0.00001
NM_001127222.2(CACNA1A):c.3236C>A (p.Ala1079Asp) rs1064797232 0.00001
NM_001127222.2(CACNA1A):c.3377A>G (p.Asn1126Ser) rs755440575 0.00001
NM_001127222.2(CACNA1A):c.3497C>T (p.Thr1166Ile) rs746222908 0.00001
NM_001127222.2(CACNA1A):c.4786G>A (p.Ala1596Thr) rs769043258 0.00001
NM_001127222.2(CACNA1A):c.4877G>A (p.Arg1626His) rs777769751 0.00001
NM_001127222.2(CACNA1A):c.536C>T (p.Thr179Met) rs773461333 0.00001
NM_001127222.2(CACNA1A):c.6005G>C (p.Gly2002Ala) rs1402384624 0.00001
NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=) rs369675855 0.00001
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu) rs751515136 0.00001
NM_001127222.2(CACNA1A):c.6449G>A (p.Arg2150Gln) rs751044309 0.00001
NM_001127222.2(CACNA1A):c.6679C>T (p.Arg2227Cys) rs757715357 0.00001
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys) rs768768744
NM_001127222.2(CACNA1A):c.1255+5C>T
NM_001127222.2(CACNA1A):c.1346-6T>C rs1352231097
NM_001127222.2(CACNA1A):c.1373A>G (p.Lys458Arg) rs1239292406
NM_001127222.2(CACNA1A):c.1465T>C (p.Tyr489His) rs1568528172
NM_001127222.2(CACNA1A):c.1624A>T (p.Thr542Ser)
NM_001127222.2(CACNA1A):c.1625C>T (p.Thr542Met)
NM_001127222.2(CACNA1A):c.1690G>A (p.Glu564Lys) rs1057519099
NM_001127222.2(CACNA1A):c.1739T>A (p.Val580Glu) rs1064797233
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile) rs1346036017
NM_001127222.2(CACNA1A):c.203G>A (p.Arg68Gln) rs576099495
NM_001127222.2(CACNA1A):c.2308G>A (p.Ala770Thr)
NM_001127222.2(CACNA1A):c.2320T>C (p.Trp774Arg) rs1568509826
NM_001127222.2(CACNA1A):c.2352G>C (p.Gln784His) rs2144958118
NM_001127222.2(CACNA1A):c.2495ACA[2] (p.Asn834del) rs750962335
NM_001127222.2(CACNA1A):c.2564A>C (p.Glu855Ala) rs2057734618
NM_001127222.2(CACNA1A):c.2575A>G (p.Arg859Gly)
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del) rs767951499
NM_001127222.2(CACNA1A):c.2584G>A (p.Ala862Thr) rs1283974516
NM_001127222.2(CACNA1A):c.2603C>T (p.Ala868Val)
NM_001127222.2(CACNA1A):c.2606G>C (p.Arg869Pro) rs1057518589
NM_001127222.2(CACNA1A):c.2657G>A (p.Ser886Asn) rs2144955896
NM_001127222.2(CACNA1A):c.2683G>A (p.Gly895Arg)
NM_001127222.2(CACNA1A):c.2840C>T (p.Pro947Leu)
NM_001127222.2(CACNA1A):c.3247G>C (p.Gly1083Arg) rs753077104
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser) rs201311000
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.3410C>T (p.Pro1137Leu) rs200333359
NM_001127222.2(CACNA1A):c.3478G>A (p.Ala1160Thr) rs1256731049
NM_001127222.2(CACNA1A):c.3518C>G (p.Ala1173Gly) rs778036647
NM_001127222.2(CACNA1A):c.354G>C (p.Glu118Asp) rs2144947250
NM_001127222.2(CACNA1A):c.3637G>T (p.Gly1213Cys)
NM_001127222.2(CACNA1A):c.3644A>G (p.Lys1215Arg) rs1425955042
NM_001127222.2(CACNA1A):c.41_55dup (p.Gly14_Gly18dup) rs1057519100
NM_001127222.2(CACNA1A):c.422T>C (p.Ile141Thr) rs2144936441
NM_001127222.2(CACNA1A):c.4297C>T (p.Arg1433Trp) rs1275025158
NM_001127222.2(CACNA1A):c.4556A>G (p.Lys1519Arg) rs752888622
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val) rs2056510928
NM_001127222.2(CACNA1A):c.4764G>A (p.Gly1588=) rs1294804448
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001127222.2(CACNA1A):c.5165A>G (p.Asp1722Gly)
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001127222.2(CACNA1A):c.5341T>C (p.Cys1781Arg) rs1600130730
NM_001127222.2(CACNA1A):c.5468T>C (p.Leu1823Pro) rs1057521706
NM_001127222.2(CACNA1A):c.55G>A (p.Ala19Thr) rs923359230
NM_001127222.2(CACNA1A):c.560C>T (p.Thr187Met) rs1015798325
NM_001127222.2(CACNA1A):c.5645T>C (p.Leu1882Pro)
NM_001127222.2(CACNA1A):c.5995G>C (p.Gly1999Arg)
NM_001127222.2(CACNA1A):c.6030G>T (p.Gln2010His)
NM_001127222.2(CACNA1A):c.6263G>C (p.Gly2088Ala) rs759252101
NM_001127222.2(CACNA1A):c.6265C>T (p.Arg2089Trp)
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser) rs2054721635
NM_001127222.2(CACNA1A):c.6425G>A (p.Arg2142Gln) rs1268148205
NM_001127222.2(CACNA1A):c.6452_6463del (p.His2151_Arg2154del) rs1469809752
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His) rs572722130
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly) rs554393704
NM_001127222.2(CACNA1A):c.6514G>T (p.Asp2172Tyr) rs370289732
NM_001127222.2(CACNA1A):c.6604C>T (p.Pro2202Ser)
NM_001127222.2(CACNA1A):c.6637C>T (p.His2213Tyr) rs1555730624
NM_001127222.2(CACNA1A):c.6641A>G (p.His2214Arg) rs1600079735
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=) rs2304094
NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu) rs1064793075
NM_001127222.2(CACNA1A):c.6704A>G (p.His2235Arg) rs758639263
NM_001127222.2(CACNA1A):c.6923G>A (p.Gly2308Asp)
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg) rs1599292506
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp) rs2054617959
NM_001127222.2(CACNA1A):c.7151G>A (p.Arg2384Gln)
NM_001127222.2(CACNA1A):c.7165C>T (p.Arg2389Trp) rs987861675
NM_001127222.2(CACNA1A):c.716T>C (p.Ile239Thr) rs1599292445
NM_001127222.2(CACNA1A):c.7190T>C (p.Val2397Ala)
NM_001127222.2(CACNA1A):c.7235G>T (p.Gly2412Val) rs775829854
NM_001127222.2(CACNA1A):c.7317dup (p.Val2440fs) rs1214586505
NM_001127222.2(CACNA1A):c.7369G>T (p.Ala2457Ser) rs954720308
NM_001127222.2(CACNA1A):c.7378_7402del (p.Pro2460fs) rs2144488778
NM_001127222.2(CACNA1A):c.7391C>T (p.Ser2464Leu) rs1171910645
NM_001127222.2(CACNA1A):c.7400G>A (p.Arg2467Gln) rs1199275549
NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro) rs1199275549
NM_001127222.2(CACNA1A):c.7408C>T (p.Arg2470Trp)
NM_001127222.2(CACNA1A):c.784+3A>G
NM_001127222.2(CACNA1A):c.788A>G (p.Asp263Gly)
NM_001127222.2(CACNA1A):c.920C>T (p.Ala307Val) rs1599276891

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