ClinVar Miner

List of variants in gene CACNA1A reported as uncertain significance for Developmental and epileptic encephalopathy, 42

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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val) rs763045560 0.00008
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly) rs771768635 0.00006
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr) rs1406066197 0.00004
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile) rs373224251 0.00004
NM_001127222.2(CACNA1A):c.2879C>T (p.Ala960Val) rs762396014 0.00003
NM_001127222.2(CACNA1A):c.3784G>A (p.Ala1262Thr) rs776503550 0.00003
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met) rs771104002 0.00003
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val) rs952757731 0.00002
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala) rs1028538547 0.00002
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr) rs121908245 0.00001
NM_001127222.2(CACNA1A):c.1611G>T (p.Met537Ile) rs752572390 0.00001
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile) rs756562814 0.00001
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys) rs2057741441 0.00001
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser) rs760816963 0.00001
NM_001127222.2(CACNA1A):c.2842C>T (p.Arg948Cys) rs16978975 0.00001
NM_001127222.2(CACNA1A):c.5015G>A (p.Arg1672His) rs1057519429 0.00001
NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln)
NM_001127222.2(CACNA1A):c.1199-7T>A rs2145126181
NM_001127222.2(CACNA1A):c.124C>T (p.Pro42Ser) rs2145192584
NM_001127222.2(CACNA1A):c.1555+3_1555+6del rs2058143459
NM_001127222.2(CACNA1A):c.175A>G (p.Met59Val) rs1599396496
NM_001127222.2(CACNA1A):c.1767T>G (p.Ile589Met)
NM_001127222.2(CACNA1A):c.1781A>C (p.Lys594Thr) rs2145005448
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile) rs1346036017
NM_001127222.2(CACNA1A):c.1898A>G (p.Gln633Arg) rs2057946815
NM_001127222.2(CACNA1A):c.190C>T (p.Pro64Ser) rs1982996175
NM_001127222.2(CACNA1A):c.1924G>A (p.Asp642Asn) rs2057938033
NM_001127222.2(CACNA1A):c.2124C>A (p.Phe708Leu) rs762654239
NM_001127222.2(CACNA1A):c.2172+14G>A rs1195908031
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu) rs1057522802
NM_001127222.2(CACNA1A):c.2674A>G (p.Ser892Gly) rs2057731579
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg) rs751726770
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp) rs747413278
NM_001127222.2(CACNA1A):c.2867G>A (p.Arg956Gln) rs551380805
NM_001127222.2(CACNA1A):c.2924G>A (p.Arg975Gln) rs748418783
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.3058_3075dup (p.Arg1025_His1026insGluAspLysGluArgArg)
NM_001127222.2(CACNA1A):c.3143G>A (p.Arg1048Gln)
NM_001127222.2(CACNA1A):c.3145C>A (p.Pro1049Thr) rs2057414205
NM_001127222.2(CACNA1A):c.34T>C (p.Tyr12His)
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del) rs750826355
NM_001127222.2(CACNA1A):c.3643A>G (p.Lys1215Glu) rs1476884019
NM_001127222.2(CACNA1A):c.3652C>T (p.Pro1218Ser)
NM_001127222.2(CACNA1A):c.3697C>T (p.Arg1233Cys) rs2057333004
NM_001127222.2(CACNA1A):c.3822+70A>G rs1462524553
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr) rs2056767982
NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln) rs2144758462
NM_001127222.2(CACNA1A):c.4328A>G (p.Asp1443Gly) rs2056674575
NM_001127222.2(CACNA1A):c.4471G>A (p.Val1491Ile)
NM_001127222.2(CACNA1A):c.4550G>T (p.Gly1517Val) rs2144748218
NM_001127222.2(CACNA1A):c.5233C>T (p.Leu1745Phe) rs2055823924
NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg) rs2055610097
NM_001127222.2(CACNA1A):c.5534G>A (p.Arg1845His)
NM_001127222.2(CACNA1A):c.5690T>G (p.Met1897Arg) rs2144595037
NM_001127222.2(CACNA1A):c.5720A>G (p.Lys1907Arg) rs2144594984
NM_001127222.2(CACNA1A):c.5735G>A (p.Gly1912Glu) rs2054931821
NM_001127222.2(CACNA1A):c.5879T>A (p.Met1960Lys)
NM_001127222.2(CACNA1A):c.5940+18C>G rs1057522421
NM_001127222.2(CACNA1A):c.6004G>A (p.Gly2002Ser) rs1568424111
NM_001127222.2(CACNA1A):c.6103G>T (p.Ala2035Ser)
NM_001127222.2(CACNA1A):c.6113T>C (p.Met2038Thr)
NM_001127222.2(CACNA1A):c.6209T>C (p.Met2070Thr) rs2144523250
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr) rs17846928
NM_001127222.2(CACNA1A):c.6506G>T (p.Arg2169Leu) rs1417890059
NM_001127222.2(CACNA1A):c.6587_6598dup (p.Arg2199_Gly2200insAspGlnGluArg)
NM_001127222.2(CACNA1A):c.6691del (p.Glu2231fs) rs2144501233
NM_001127222.2(CACNA1A):c.6862del (p.Gln2288fs) rs2144493067
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser) rs1555774859
NM_001127222.2(CACNA1A):c.6901C>G (p.Pro2301Ala) rs1351010453
NM_001127222.2(CACNA1A):c.7136C>T (p.Ser2379Phe) rs2054617641
NM_001127222.2(CACNA1A):c.7235G>T (p.Gly2412Val) rs775829854
NM_001127222.2(CACNA1A):c.7316C>T (p.Pro2439Leu) rs1235870142
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)
NM_001127222.2(CACNA1A):c.7348C>T (p.Arg2450Cys) rs1397153104
NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro) rs1199275549
NM_001127222.2(CACNA1A):c.7445T>G (p.Leu2482Arg) rs2144488387
NM_001127222.2(CACNA1A):c.7485C>G (p.His2495Gln)
NM_001127222.2(CACNA1A):c.781del (p.Thr261fs) rs2059189334
NM_001127222.2(CACNA1A):c.851G>T (p.Gly284Val) rs1555773757

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